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AV Peeters

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LF Van Gaal; AV Peeters; Christophe E M De Block; I H de Leeuw; Rochelle Thiart; Maritha J Kotze
Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics.
Charlotte L Scholtz; AV Peeters; CF Hoogendijk; Rochelle Thiart; Nico de Villiers; Renate Hillermann; J Liu; Adrian David Marais; Maritha J Kotze
Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia.
AV Peeters; Rochelle Thiart; Nico de Villiers; H K Jensen; LF Van Gaal; Maritha J Kotze
Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.

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All Publications

2001: LF Van Gaal; AV Peeters; Christophe E M De Block; I H de Leeuw; Rochelle Thiart; Maritha J Kotze
Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics.
Molecular and cellular probes 2001;15(6):329-36.
1999: Charlotte L Scholtz; AV Peeters; CF Hoogendijk; Rochelle Thiart; Nico de Villiers; Renate Hillermann; J Liu; Adrian David Marais; Maritha J Kotze
Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia.
Human molecular genetics 1999;8(11):2025-30.
1999: AV Peeters; Rochelle Thiart; Nico de Villiers; H K Jensen; LF Van Gaal; Maritha J Kotze
Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.
Molecular and cellular probes 1999;13(4):257-60.
1998: Maritha J Kotze; AV Peeters; O Loubser; L Theart; Lana du Plessis; V M Hayes; G de Jong; Nico de Villiers; Carl Lombard; P S Hansen; Frederick J Raal
Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa.
Clinical genetics 1998;54(1):74-8.
1998: AV Peeters; Maritha J Kotze; Charlotte L Scholtz; L F De Waal; David C Rubinsztein; G A Coetzee; G Zuliani; R Streiff; J Liu; Deneys R van der Westhuyzen
A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi.
Journal of lipid research 1998;39(5):1021-4.
1997: AV Peeters; LF Van Gaal; Lana du Plessis; M P Lombardi; L M Havekes; Maritha J Kotze
Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics.
Human genetics 1997;100(2):266-70.
1996: Maritha J Kotze; Rochelle Thiart; O Loubser; Nico de Villiers; M Santos; M A Vargas; AV Peeters
Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene.
Human genetics 1996;98(4):476-8.
1995: AV Peeters; L F Van Gaal; L Theart; E Langenhoven; Maritha J Kotze
Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms.
Human genetics 1995;96(4):401-6.
1995: Maritha J Kotze; L Theart; M Callis; AV Peeters; Rochelle Thiart; E Langenhoven
Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations.
PCR methods and applications 1995;4(6):352-6.
1995: L Theart; Maritha J Kotze; E Langenhoven; O Loubser; AV Peeters; C J Lintott; R S Scott
Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.
Journal of medical genetics 1995;32(5):379-82.
1995: AV Peeters; L F Van Gaal; Maritha J Kotze
A rare silent G to T mutation in exon 4 of the human low density lipoprotein receptor gene.
Clinical genetics 1995;47(2):101-2.
1995: Maritha J Kotze; L Theart; AV Peeters; E Langenhoven
A de novo duplication in the low density lipoprotein receptor gene.
Human mutation 1995;6(2):181-3.
1994: Maritha J Kotze; AV Peeters; E Langenhoven; J G Wauters; L F Van Gaal
Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.
Atherosclerosis 1994;111(2):217-25.
1994: Maritha J Kotze; E Langenhoven; AV Peeters; L Theart; C J Oosthuizen
Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis.
Molecular and cellular probes 1994;8(6):513-8.
1994: AV Peeters; Maritha J Kotze
Improved heteroduplex detection of single-base substitutions in PCR-amplified DNA.
PCR methods and applications 1994;4(3):188-90.