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Mutational analysis for Wilson's disease

✍ Scribed by Wai Kay Seto; Chloe Miu Mak; David But; Ivun Hung; Ching Wan Lam; Sidney Tam; Man Fung Yuen; Ching Lung Lai


Book ID
117304901
Publisher
The Lancet
Year
2009
Tongue
English
Weight
77 KB
Volume
374
Category
Article
ISSN
0140-6736

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The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified. This study aimed to detect disease-causing mutations, to clarify their freq

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In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802-808delTGTAAGT, 2