Mutational analysis for Wilson's disease
β 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
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