Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity-Reference-Cited by-同舟云学术

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Published:2007-11-22 Issue:1 Volume:53 Page:55-63
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Mak Chloe Miu,Lam Ching-Wan,Tam Sidney,Lai Ching-Lung,Chan Lik-Yuen,Fan Sheung-Tat,Lau Yu-Lung,Lai Jak-Yiu,Yuen Patrick,Hui Joannie,Fu Chun-Cheung,Wong Ka-Sing,Mak Wing-Lai,Tze Kong,Tong Sui-Fan,Lau Abby,Leung Nancy,Hui Aric,Cheung Ka-Ming,Ko Chun-Hung,Chan Yiu-Ki,Ma Oliver,Chau Tai-Nin,Chiu Alexander,Chan Yan-Wo

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2008207.pdf

Reference39 articles.

1. Butler P, McIntyre N, Mistry PK (2001) Molecular diagnosis of Wilson disease. Mol Genet Metab 72:223–230

2. Chu NS, Hung TP (1993) Geographic variations in Wilson’s disease. J Neurol Sci 117:1–7

3. Chuang LM, Wu HP, Jang MH, Wang TR, Sue WC, Lin BJ, Cox DW, Tai TY (1996) High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Genet 33:521–523

4. Curtis D, Durkie M, Balac P, Sheard D, Goodeve A, Peake I, Quarrell O, Tanner S (1999) A study of Wilson disease mutations in Britain. Hum Mutat 14:304–311

5. Ferenci P (2006) Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 120:151–159

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