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

✍ Scribed by Chang-Hai Tsai; Fuu-Jen Tsai; Jer-Yuarn Wu; Jang-Gowth Chang; Cheng-Chun Lee; Shuan-Pei Lin; Chi-Fan Yang; Yuh-Jyh Jong; Man-Chi Lo

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 271 KB
Volume: 12
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1998)12:6<370::aid-humu2>3.0.co;2-s

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✦ Synopsis

Kan

Wilson disease is an autosomal recessive disorder of copper metabolism. Mutation screening in Wilson disease has led to the detection of at least 89 disease-specific mutations. Some mutations appear to be population specific, while others are common to many populations. In this study, 38 Taiwanese patients with Wilson disease were screened using single-strand conformation polymorphism analysis, followed by direct DNA sequencing. We found 12 different mutations, six of which were novel. All our detected mutations were found to be in eight exons. Four mutations in three loci (Arg778Gln, Arg778Leu, Gly943Asp, and Pro992Leu) accounted for about 58% of the mutant alleles we detected. Using an RNA transcriptional assay, we confirmed that both of our detected splice-site mutations resulted in exon skipping.

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