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Pragna Patel

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

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Pemberton T J; Jakobsson M; Conrad D F; Coop G; Wall J D; Pritchard J K; Patel P I; Rosenberg N A
Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India.
Pemberton Trevor J; Mehta Niyati U; Witonsky David; Di Rienzo Anna; Allayee Hooman; Conti David V; Patel Pragna I
Prevalence of common disease-associated variants in Asian Indians.
Pemberton Trevor J; Li Fang-Yuan; Oka Shoji; Mendoza-Fandino Gustavo A; Hsu Ya-Hsuan; Bringas Pablo; Chai Yang; Snead Malcolm L; Mehrian-Shai Ruty; Patel Pragna I
Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis.

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All Publications

2008: Pemberton T J; Jakobsson M; Conrad D F; Coop G; Wall J D; Pritchard J K; Patel P I; Rosenberg N A
Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India.
Annals of human genetics 2008;72(Pt 4):535-46.
2008: Pemberton Trevor J; Mehta Niyati U; Witonsky David; Di Rienzo Anna; Allayee Hooman; Conti David V; Patel Pragna I
Prevalence of common disease-associated variants in Asian Indians.
BMC genetics 2008;9():13.
2007: Pemberton Trevor J; Li Fang-Yuan; Oka Shoji; Mendoza-Fandino Gustavo A; Hsu Ya-Hsuan; Bringas Pablo; Chai Yang; Snead Malcolm L; Mehrian-Shai Ruty; Patel Pragna I
Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis.
Developmental dynamics : an official publication of the American Association of Anatomists 2007;236(8):2245-57.
2007: Edelman E A; Girirajan S; Finucane B; Patel P I; Lupski J R; Smith A C M; Elsea S H
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
Clinical genetics 2007;71(6):540-50.
2007: Pemberton Trevor J; Mendoza Gustavo; Gee Jason; Patel Pragna I
Inherited dental anomalies: a review and prospects for the future role of clinicians.
Journal of the California Dental Association 2007;35(5):324-6, 328-33.
2007: Se Fum Wong Steven; Kuei Jeffrey J; Prasad Naina; Agonafer Etsemaye; Mendoza Gustavo A; Pemberton Trevor J; Patel Pragna I
A simple method for DNA isolation from clotted blood extricated rapidly from serum separator tubes.
Clinical chemistry 2007;53(3):522-4.
2007: Tarpey Patrick; Pemberton Trevor J; Stockton David W; Das Parimal; Ninis Vasiliki; Edkins Sarah; Andrew Futreal P; Wooster Richard; Kamath Sushanth; Nayak Rabindra; Stratton Michael R; Patel Pragna I
A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.
American journal of medical genetics. Part A 2007;143(4):390-4.
2007: Mendoza Gustavo; Pemberton Trevor J; Lee Kwanghyuk; Scarel-Caminaga Raquel; Mehrian-Shai Ruty; Gonzalez-Quevedo Catalina; Ninis Vasiliki; Hartiala Jaana; Allayee Hooman; Snead Malcolm L; Leal Suzanne M; Line Sergio R P; Patel Pragna I
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.
Human genetics 2007;120(5):653-62.
2006: Rosenberg Noah A; Mahajan Saurabh; Gonzalez-Quevedo Catalina; Blum Michael G B; Nino-Rosales Laura; Ninis Vasiliki; Das Parimal; Hegde Madhuri; Molinari Laura; Zapata Gladys; Weber James L; Belmont John W; Patel Pragna I
Low levels of genetic divergence across geographically and linguistically diverse populations from India.
PLoS genetics 2006;2(12):e215.
2006: Pemberton Trevor J; Gee Jason; Patel Pragna I
Gene discovery for dental anomalies: a primer for the dental professional.
Journal of the American Dental Association (1939) 2006;137(6):743-52.
2006: Tymchuk Christopher N; Hartiala Jaana; Patel Pragna I; Mehrabian Margarete; Allayee Hooman
Nonconventional genetic risk factors for cardiovascular disease.
Current atherosclerosis reports 2006;8(3):184-92.
2005: Yang Nan; Li Hongzhe; Criswell Lindsey A; Gregersen Peter K; Alarcon-Riquelme Marta E; Kittles Rick; Shigeta Russell; Silva Gabriel; Patel Pragna I; Belmont John W; Seldin Michael F
Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine.
Human genetics 2005;118(3-4):382-92.
2005: Nino-Rosales Maria L; Patel Pragna I
Genes underlying familial hypodontia: a review and discussion of the role of dental hygienists in future research.
Journal of dental hygiene : JDH / American Dental Hygienists' Association 2005;79(3):10.
2003: Bi Weimin; Park Sung-Sup; Shaw Christine J; Withers Marjorie A; Patel Pragna I; Lupski James R
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
American journal of human genetics 2003;73(6):1302-15.
2003: Das Parimal; Hai Mehreen; Elcock Claire; Leal Suzanne M; Brown Donald T; Brook Alan H; Patel Pragna I
Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia.
American journal of medical genetics. Part A 2003;118A(1):35-42.
2002: Hai Mehreen; Muja Naser; DeVries George H; Quarles Richard H; Patel Pragna I
Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies.
Journal of neuroscience research 2002;69(4):497-508.
2002: Das Parimal; Stockton David W; Bauer Christopher; Shaffer Lisa G; D'Souza Rena N; Wright TimothyJ; Patel Pragna I
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.
Human genetics 2002;110(4):371-6.
2001: Lucas R E; Vlangos C N; Das P; Patel P I; Elsea S H
Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.
European journal of human genetics : EJHG 2001;9(12):892-902.
2001: Hai M; Bidichandani S I; Patel P I
Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene.
Journal of neuroscience research 2001;65(6):508-19.
2001: Hai M; Bidichandani S I; Hogan M E; Patel P I
Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene.
Antisense & nucleic acid drug development 2001;11(4):233-46.
2001: Patel P I; Isaya G
Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.
American journal of human genetics 2001;69(1):15-24.
2000: Cavadini P; Gellera C; Patel P I; Isaya G
Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.
Human molecular genetics 2000;9(17):2523-30.
2000: Goldenberg M; Das P; Messersmith M; Stockton D W; Patel P I; D'Souza R N
Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia.
Journal of dental research 2000;79(7):1469-75.
2000: Bidichandani S I; Garcia C A; Patel P I; Dimachkie M M
Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.
Archives of neurology 2000;57(2):246-51.
2000: Stockton D W; Das P; Goldenberg M; D'Souza R N; Patel P I
Mutation of PAX9 is associated with oligodontia.
Nature genetics 2000;24(1):18-9.
2000: Vlangos C N; Das P; Patel P I; Elsea S H
Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval.
Cytogenetics and cell genetics 2000;88(3-4):283-5.
1999: Elsea S H; Mykytyn K; Ferrell K; Coulter K L; Das P; Dubiel W; Patel P I; Metherall J E
Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome.
American journal of medical genetics 1999;87(4):342-8.
1999: Bidichandani S I; Purandare S M; Taylor E E; Gumin G; Machkhas H; Harati Y; Gibbs R A; Ashizawa T; Patel P I
Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.
Human molecular genetics 1999;8(13):2425-36.
1999: Elsea S H; Clark I B; Juyal R C; Meyer D J; Meyer D I; Patel P I
Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1-->q11.2 with somatic cell hybrids and in situ hybridization.
Cytogenetics and cell genetics 1999;84(1-2):48-9.
1998: Sun D; McDonnell M; Chen X S; Lakkis M M; Li H; Isaacs S N; Elsea S H; Patel P I; Funk C D
Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment.
The Journal of biological chemistry 1998;273(50):33540-7.
1998: Machkhas H; Bidichandani S I; Patel P I; Harati Y
A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism.
Muscle & nerve 1998;21(3):390-3.
1998: Elsea S H; Fritz E; Schoener-Scott R; Meyn M S; Patel P I
Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity.
American journal of medical genetics 1998;75(1):104-8.
1998: Bidichandani S I; Ashizawa T; Patel P I
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.
American journal of human genetics 1998;62(1):111-21.
1998: Purandare S M; Lee J D; Patel P I
Assignment of big MAP kinase (PRKM7) to human chromosome 17 band p11.2 with somatic cell hybrids.
Cytogenetics and cell genetics 1998;83(3-4):258-9.
1998: Sun D; Elsea S H; Patel P I; Funk C D
Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13.
Cytogenetics and cell genetics 1998;81(1):79-82.
1997: Purandare S M; Patel P I
Recombination hot spots and human disease.
Genome research 1997;7(8):773-86.
1997: Bidichandani S I; Ashizawa T; Patel P I
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
American journal of human genetics 1997;60(5):1251-6.
1997: Yang S P; Bidichandani S I; Figuera L E; Juyal R C; Saxon P J; Baldini A; Patel P I
Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions.
American journal of human genetics 1997;60(5):1184-93.
1997: Fritz E; Elsea S H; Patel P I; Meyn M S
Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(9):4538-42.
1997: Cossée M; Campuzano V; Koutnikova H; Fischbeck K; Mandel J L; Koenig M; Bidichandani S I; Patel P I; Moltè M D; Cañizares J; De Frutos R; Pianese L; Cavalcanti F; Monticelli A; Cocozza S; Montermini L; Pandolfo M
Frataxin fracas.
Nature genetics 1997;15(4):337-8.
1997: Jankovic J; Beach J; Pandolfo M; Patel P I
Familial essential tremor in 4 kindreds. Prospects for genetic mapping.
Archives of neurology 1997;54(3):289-94.
1997: Elsea S H; Purandare S M; Adell R A; Juyal R C; Davis J G; Finucane B; Magenis R E; Patel P I
Definition of the critical interval for Smith-Magenis syndrome.
Cytogenetics and cell genetics 1997;79(3-4):276-81.
1996: Juyal R C; Kuwano A; Kondo I; Zara F; Baldini A; Patel P I
Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.
American journal of medical genetics 1996;66(2):193-6.
1996: Trask B J; Mefford H; van den Engh G; Massa H F; Juyal R C; Potocki L; Finucane B; Abuelo D N; Witt D R; Magenis E; Baldini A; Greenberg F; Lupski J R; Patel P I
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
Human genetics 1996;98(6):710-8.
1996: Nimgaonkar V L; Sanders A R; Ganguli R; Zhang X R; Brar J; Hogge W; Fann W E; Patel P I; Chakravarti A
Association study of schizophrenia and the dopamine D3 receptor gene locus in two independent samples.
American journal of medical genetics 1996;67(6):505-14.
1996: Jiralerspong S; Patel P I
Regulation of the hypoxanthine phosphoribosyltransferase gene: in vitro and in vivo approaches.
Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.) 1996;212(2):116-27.
1996: Juyal R C; Figuera L E; Hauge X; Elsea S H; Lupski J R; Greenberg F; Baldini A; Patel P I
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
American journal of human genetics 1996;58(5):998-1007.
1996: Campuzano V; Montermini L; Moltò M D; Pianese L; Cossée M; Cavalcanti F; Monros E; Rodius F; Duclos F; Monticelli A; Zara F; Cañizares J; Koutnikova H; Bidichandani S I; Gellera C; Brice A; Trouillas P; De Michele G; Filla A; De Frutos R; Palau F; Patel P I; Di Donato S; Mandel J L; Cocozza S; Koenig M; Pandolfo M
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science (New York, N.Y.) 1996;271(5254):1423-7.
1995: Elsea S H; Juyal R C; Jiralerspong S; Finucane B M; Pandolfo M; Greenberg F; Baldini A; Stover P; Patel P I
Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.
American journal of human genetics 1995;57(6):1342-50.
1995: Rincón-Limas D E; Amaya-Manzanares F; Niño-Rosales M L; Yu Y; Yang T P; Patel P I
Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human hypoxanthine phosphoribosyltransferase gene.
Molecular and cellular biology 1995;15(12):6561-71.
1995: Juyal R C; Finucane B; Shaffer L G; Lupski J R; Greenberg F; Scott C I; Baldini A; Patel P I
Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.
American journal of medical genetics 1995;59(3):406-7.
1995: Zara F; Bianchi A; Avanzini G; Di Donato S; Castellotti B; Patel P I; Pandolfo M
Mapping of genes predisposing to idiopathic generalized epilepsy.
Human molecular genetics 1995;4(7):1201-7.
1995: Figuera L E; Pandolfo M; Dunne P W; Cantú J M; Patel P I
Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1.
Nature genetics 1995;10(2):202-7.
1995: Zhao Z; Lee C C; Jiralerspong S; Juyal R C; Lu F; Baldini A; Greenberg F; Caskey C T; Patel P I
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients.
Human molecular genetics 1995;4(4):589-97.
1994: Suter U; Snipes G J; Schoener-Scott R; Welcher A A; Pareek S; Lupski J R; Murphy R A; Shooter E M; Patel P I
Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.
The Journal of biological chemistry 1994;269(41):25795-808.
1994: Matise T C; Chakravarti A; Patel P I; Lupski J R; Nelis E; Timmerman V; Van Broeckhoven C; Weeks D E
Detection of tandem duplications and implications for linkage analysis.
American journal of human genetics 1994;54(6):1110-21.
1994: Rincón-Limas D E; Geske R S; Xue J J; Hsu C Y; Overbeek P A; Patel P I
5'-flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice.
Journal of neuroscience research 1994;38(3):259-67.
1994: Patel P I; Lupski J R
Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.
Trends in genetics : TIG 1994;10(4):128-33.
1994: Chance P F; Abbas N; Lensch M W; Pentao L; Roa B B; Patel P I; Lupski J R
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
Human molecular genetics 1994;3(2):223-8.
1993: Roa B B; Garcia C A; Pentao L; Killian J M; Trask B J; Suter U; Snipes G J; Ortiz-Lopez R; Shooter E M; Patel P I; Lupski J R
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
Nature genetics 1993;5(2):189-94.
1993: Wise C A; Garcia C A; Davis S N; Heju Z; Pentao L; Patel P I; Lupski J R
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
American journal of human genetics 1993;53(4):853-63.
1993: Zori R T; Lupski J R; Heju Z; Greenberg F; Killian J M; Gray B A; Driscoll D J; Patel P I; Zackowski J L
Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
American journal of medical genetics 1993;47(4):504-11.
1993: Roa B B; Garcia C A; Suter U; Kulpa D A; Wise C A; Mueller J; Welcher A A; Snipes G J; Shooter E M; Patel P I; Lupski J R
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
The New England journal of medicine 1993;329(2):96-101.
1993: Patel P I
Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene.
Current opinion in genetics & development 1993;3(3):438-44.
1993: Lupski J R; Pentao L; Williams L L; Patel P I
Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.
American journal of medical genetics 1993;45(1):92-6.
1993: Sanders A R; Rincon-Limas D E; Chakraborty R; Grandchamp B; Hamilton J D; Fann W E; Patel P I
Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia.
Schizophrenia research 1993;8(3):211-21.
1993: Roa B B; Garcia C A; Wise C A; Anderson K; Greenberg F; Patel P I; Lupski J R
Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.
Progress in clinical and biological research 1993;384():187-205.
1992: Pentao L; Wise C A; Chinault A C; Patel P I; Lupski J R
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
Nature genetics 1992;2(4):292-300.
1992: Guzzetta V; Franco B; Trask B J; Zhang H; Saucedo-Cardenas O; Montes de Oca-Luna R; Greenberg F; Chinault A C; Lupski J R; Patel P I
Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.
Genomics 1992;13(3):551-9.
1992: Patel P I; Roa B B; Welcher A A; Schoener-Scott R; Trask B J; Pentao L; Snipes G J; Garcia C A; Francke U; Shooter E M; Lupski J R; Suter U
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
Nature genetics 1992;1(3):159-65.
1992: Pentao L; Lewis R A; Ledbetter D H; Patel P I; Lupski J R
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
American journal of human genetics 1992;50(4):690-9.
1992: Lupski J R; Wise C A; Kuwano A; Pentao L; Parke J T; Glaze D G; Ledbetter D H; Greenberg F; Patel P I
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Nature genetics 1992;1(1):29-33.
1991: Greenberg F; Guzzetta V; Montes de Oca-Luna R; Magenis R E; Smith A C; Richter S F; Kondo I; Dobyns W B; Patel P I; Lupski J R
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
American journal of human genetics 1991;49(6):1207-18.
1991: Rincón-Limas D E; Krueger D A; Patel P I
Functional characterization of the human hypoxanthine phosphoribosyltransferase gene promoter: evidence for a negative regulatory element.
Molecular and cellular biology 1991;11(8):4157-64.
1991: Franco B; Lai L W; Patterson D; Ledbetter D H; Trask B J; van den Engh G; Iannaccone S; Frances S; Patel P I; Lupski J R
Molecular characterization of a patient with del(1)(q23-q25).
Human genetics 1991;87(3):269-77.
1991: Lupski J R; de Oca-Luna R M; Slaugenhaupt S; Pentao L; Guzzetta V; Trask B J; Saucedo-Cardenas O; Barker D F; Killian J M; Garcia C A; Chakravarti A; Patel P I
DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Cell 1991;66(2):219-32.
1991: Guzzetta V; Montes de Oca-Luna R; Lupski J R; Patel P I
Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.
Genomics 1991;9(1):31-6.
1990: Patel P I; Garcia C; Montes de Oca-Luna R; Malamut R I; Franco B; Slaugenhaupt S; Chakravarti A; Lupski J R
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
American journal of human genetics 1990;47(6):926-34.
1990: Franco B; Rincon-Limas D; Nakamura Y; Patel P I; Lupski J R
Two MspI RFLPs at the D17S258 locus.
Nucleic acids research 1990;18(23):7196.
1990: Ray R; Rincon-Limas D; Wright R A; Davis S N; Lupski J R; Patel P I
Three polymorphisms at the D17S29 locus.
Nucleic acids research 1990;18(16):4958.
1990: Patel P I; Franco B; Garcia C; Slaugenhaupt S A; Nakamura Y; Ledbetter D H; Chakravarti A; Lupski J R
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
American journal of human genetics 1990;46(4):801-9.
1990: Patel P I; Ledbetter D H; Frances S; Franco B; Wallace M R; Collins F S; Lupski J R
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]
Nucleic acids research 1990;18(4):1087.
1988: Yang T P; Stout J T; Konecki D S; Patel P I; Alford R L; Caskey C T
Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement.
Somatic cell and molecular genetics 1988;14(3):293-303.
1986: Patel P I; Yang T P; Stout J T; Konecki D S; Chinault A C; Caskey C T
Mutational diversity at the human HPRT locus.
Progress in clinical and biological research 1986;209A():457-63.
1984: Yang T P; Patel P I; Chinault A C; Stout J T; Jackson L G; Hildebrand B M; Caskey C T
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Nature 1984;310(5976):412-4.

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