Lee CC - Search Results

1

A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family.

Wu MC, Wu JY, Lee CC, Tsai CH, Tsai FJ. Wu MC, et al. Among authors: lee cc. Hum Mutat. 2001;17(1):81-2. doi: 10.1002/1098-1004(2001)17:1<81::AID-HUMU31>3.0.CO;2-U. Hum Mutat. 2001. PMID: 11139267 No abstract available.

2

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: lee cc. 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

3

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: lee cc. 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

4

A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

Wu JY, Yang CF, Lee CC, Chang JG, Tsai FJ. Wu JY, et al. Among authors: lee cc. Hum Mutat. 2000 Apr;15(4):389-90. doi: 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU31>3.0.CO;2-0. Hum Mutat. 2000. PMID: 10738004 No abstract available.

5

An R223P mutation in EXT2 gene causes hereditary multiple exostoses.

Shi YR, Wu JY, Tsai FJ, Lee CC, Tsai CH. Shi YR, et al. Among authors: lee cc. Hum Mutat. 2000 Apr;15(4):390-1. doi: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU35>3.0.CO;2-E. Hum Mutat. 2000. PMID: 10738008 No abstract available.

6

Identification of a polymorphism (D366H) in the endoglin gene in Chinese.

Lin WD, Tsai FJ, Lee CC, Wu JY. Lin WD, et al. Among authors: lee cc. Hum Mutat. 2000 Jun;15(6):583. doi: 10.1002/1098-1004(200006)15:6<583::AID-HUMU23>3.0.CO;2-#. Hum Mutat. 2000. PMID: 10862100 No abstract available.

7

Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.

Lee CC, Wu JY, Tsai FJ, Kodama H, Abe T, Yang CF, Tsai CH. Lee CC, et al. J Hum Genet. 2000;45(5):275-9. doi: 10.1007/s100380070015. J Hum Genet. 2000. PMID: 11043508

8

A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).

Wu MC, Tsai FJ, Lee CC, Tsai CH, Wu JY. Wu MC, et al. Among authors: lee cc. Hum Mutat. 2000 Nov;16(5):447. doi: 10.1002/1098-1004(200011)16:5<447::AID-HUMU17>3.0.CO;2-M. Hum Mutat. 2000. PMID: 11058910 No abstract available.

9

Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese.

Yang CF, Wu JY, Tsai FJ, Lee CC, Lin WD. Yang CF, et al. Among authors: lee cc. Hum Mutat. 2000 Nov;16(5):448. doi: 10.1002/1098-1004(200011)16:5<448::AID-HUMU21>3.0.CO;2-#. Hum Mutat. 2000. PMID: 11058914 No abstract available.

10

A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis.

Tsai FJ, Yang C, Wu JY, Lin HJ, Lee CC, Tsai CH. Tsai FJ, et al. Among authors: lee cc. Hum Mutat. 2000 Nov;16(5):449. doi: 10.1002/1098-1004(200011)16:5<449::AID-HUMU23>3.0.CO;2-R. Hum Mutat. 2000. PMID: 11058916 No abstract available.

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