Mutational analysis ofATP7Bgene in Egyptian children with Wilson disease: 12 novel mutations
✍ Scribed by Tawhida Y. Abdelghaffar; Solaf M. Elsayed; Ezzat Elsobky; Bettina Bochow; Janine Büttner; Hartmut Schmidt
- Publisher
- Nature Publishing Group
- Year
- 2008
- Tongue
- English
- Weight
- 192 KB
- Volume
- 53
- Category
- Article
- ISSN
- 1435-232X
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## Communicated by Jurgen Horst Wilson disease (WND), an autosomal recessive disorder of copper transport, is characterized by excessive accumulation of intracellular copper in liver and extrahepatic tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ce