Lin SP - Search Results

1

Mutation analysis of Wilson disease in Taiwan and description of six new mutations.

Tsai CH, Tsai FJ, Wu JY, Chang JG, Lee CC, Lin SP, Yang CF, Jong YJ, Lo MC. Tsai CH, et al. Among authors: lin sp. Hum Mutat. 1998;12(6):370-6. doi: 10.1002/(SICI)1098-1004(1998)12:6<370::AID-HUMU2>3.0.CO;2-S. Hum Mutat. 1998. PMID: 9829905

2

Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.

Tsai CH, Tsai FJ, Wu JY, Lin SP, Chang JG, Yang CF, Lee CC. Tsai CH, et al. Among authors: lin sp. Hum Mutat. 1999 Dec;14(6):542. doi: 10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU14>3.0.CO;2-3. Hum Mutat. 1999. PMID: 10571953

3

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).

Wu MC, Tsai FJ, Le CC, Lin SP, Wu JY. Wu MC, et al. Among authors: lin sp. Hum Mutat. 2000 Apr;15(4):390. doi: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU32>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10738005 No abstract available.

4

A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.

Yang CF, Tsai FJ, Lin SP, Lee CC, Wu JY. Yang CF, et al. Among authors: lin sp. Hum Mutat. 2001 Sep;18(3):254. doi: 10.1002/humu.1187. Hum Mutat. 2001. PMID: 11524742 No abstract available.

5

Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations.

Tsai FJ, Lee CC, Wu MC, Lin SP, Lin CY, Tsai CH, Kodama H, Wu JY. Tsai FJ, et al. Among authors: lin cy, lin sp. Acta Paediatr Taiwan. 2001 Jul-Aug;42(4):231-5. Acta Paediatr Taiwan. 2001. PMID: 11550412

6

Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.

Yang CF, Wu JY, Lin SP, Tsai FJ. Yang CF, et al. Among authors: lin sp. J Formos Med Assoc. 2001 Dec;100(12):820-3. J Formos Med Assoc. 2001. PMID: 11802522

7

Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.

Tsai FJ, Hwu WL, Lin SP, Chang JG, Wang TR, Tsai CH. Tsai FJ, et al. Among authors: lin sp. Hum Mutat. 1998;Suppl 1:S18-9. doi: 10.1002/humu.1380110106. Hum Mutat. 1998. PMID: 9452027 No abstract available.

8

Prenatal prediction of spinal muscular atrophy in Chinese.

Lin SP, Chang JG, Jong YJ, Yang TY, Tsai CH, Wang NM, Li H, Hsieh-Li HM, Hu CJ. Lin SP, et al. Prenat Diagn. 1999 Jul;19(7):657-61. doi: 10.1002/(sici)1097-0223(199907)19:7<657::aid-pd602>3.0.co;2-p. Prenat Diagn. 1999. PMID: 10419615

9

Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients.

Jong YJ, Chang JG, Lin SP, Yang TY, Wang JC, Chang CP, Lee CC, Li H, Hsieh-Li HM, Tsai CH. Jong YJ, et al. Among authors: lin sp. J Neurol Sci. 2000 Feb 15;173(2):147-53. doi: 10.1016/s0022-510x(99)00325-1. J Neurol Sci. 2000. PMID: 10675659

10

Molecular diagnosis of Apert syndrome in Chinese patients.

Tsai FJ, Tsai CH, Peng CT, Lin SP, Hwu WL, Wang TR, Lee CC, Wu JY. Tsai FJ, et al. Among authors: lin sp. Acta Paediatr Taiwan. 1999 Jan-Feb;40(1):31-3. Acta Paediatr Taiwan. 1999. PMID: 10910582

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