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SP Lin

Research Profile

Geographic Areas

Taiwan
China

Phenomena

Polymorphism, Single-Stranded Conformational

Disorders

Chemicals & Drugs

Procedures

Physiology

Co-author Network

Publications

TOP 3
CF Yang; Fuu-Jen Tsai; SP Lin; Cheng-Chun Lee; Jer-Yuarn Wu
A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.
Fuu-Jen Tsai; Cheng-Chun Lee; Mei-Chen Wu; SP Lin; C Y Lin; Chang-Hai Tsai; H Kodama; Jer-Yuarn Wu
Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations.
Wei-De Lin; Jer-Yuarn Wu; Chien-Chen Lai; Fuu-Jen Tsai; Chang-Hai Tsai; SP Lin; D M Niu
A pilot study of neonatal screening by electrospray ionization tandem mass spectrometry in Taiwan.

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All Publications

2001: CF Yang; Fuu-Jen Tsai; SP Lin; Cheng-Chun Lee; Jer-Yuarn Wu
A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.
Human mutation 2001;18(3):254.
2001: Fuu-Jen Tsai; Cheng-Chun Lee; Mei-Chen Wu; SP Lin; C Y Lin; Chang-Hai Tsai; H Kodama; Jer-Yuarn Wu
Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2001;42(4):231-5.
2001: Wei-De Lin; Jer-Yuarn Wu; Chien-Chen Lai; Fuu-Jen Tsai; Chang-Hai Tsai; SP Lin; D M Niu
A pilot study of neonatal screening by electrospray ionization tandem mass spectrometry in Taiwan.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2001;42(4):224-30.
2000: Mei-Chen Wu; Fuu-Jen Tsai; C C Le; SP Lin; Jer-Yuarn Wu
Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).
Human mutation 2000;15(4):390.
1999: Chang-Hai Tsai; Fuu-Jen Tsai; Jer-Yuarn Wu; SP Lin; Tai-Heng Chen; CF Yang; Cheng-Chun Lee
Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.
Human mutation 1999;14(6):542.
1999: Fuu-Jen Tsai; L P Tsai; SP Lin; Chang-Hai Tsai; Ching-Tien Peng; Tso-Ren Wang; Cheng-Chun Lee; Jer-Yuarn Wu
An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 1999;40(4):262-4.
1999: SP Lin; Tai-Heng Chen; Yuh-Jyh Jong; TY Yang; Chang-Hai Tsai; NM Wang; H Li; Hsiu Mei Hsieh-Li; C J Hu
Prenatal prediction of spinal muscular atrophy in Chinese.
Prenatal diagnosis 1999;19(7):657-61.
1999: Fuu-Jen Tsai; Chang-Hai Tsai; Ching-Tien Peng; SP Lin; Wuh-Liang Hwu; Tso-Ren Wang; Cheng-Chun Lee; Jer-Yuarn Wu
Molecular diagnosis of Apert syndrome in Chinese patients.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 1999;40(1):31-3.
1998: Chang-Hai Tsai; Fuu-Jen Tsai; Jer-Yuarn Wu; Tai-Heng Chen; Cheng-Chun Lee; SP Lin; CF Yang; Y J Jong; M C Lo
Mutation analysis of Wilson disease in Taiwan and description of six new mutations.
Human mutation 1998;12(6):370-6.
1998: Fuu-Jen Tsai; Wuh-Liang Hwu; SP Lin; Jan-Gowth Chang; Tso-Ren Wang; Chang-Hai Tsai
Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.
Human mutation 1998;Suppl 1():S18-9.
1997: Tai-Heng Chen; Y J Jong; SP Lin; bing-wen soong; Chang-Hai Tsai; TY Yang; C P Chang; W S Wang
Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents.
Human genetics 1997;100(5-6):577-81.
1995: Tai-Heng Chen; Y J Jong; J M Huang; W S Wang; TY Yang; C P Chang; Y J Chen; SP Lin
Molecular basis of spinal muscular atrophy in Chinese.
American journal of human genetics 1995;57(6):1503-5.