Mutation analysis of Wilson disease in the Spanish population – identification of a prevalent substitution and eight novel mutations in the ATP7B gene
✍ Scribed by E Margarit; V Bach; D Gómez; M Bruguera; P Jara; R Queralt; F Ballesta
- Book ID
- 110888042
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 838 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0009-9163
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Wilson disease (WD) is a rare inherited autosomal recessive disorder caused by a defect in a metal transporting P-type ATPase, resulting in copper overload in various tissues and cells. The aim was to assess both the phenotype in Brazilian WD patients and the corresponding ATP7B genotype. Sixty subj
Wilso$disease (WND) is an inborn error of copper metabolism inherited in an autosomal recessive manner. We here report a study of mutations and haplotypes associated with WND in the Japanese. Hepatic and neurological symptoms of Wilson disease (WND), an inborn error of copper metabolism, are ascrib
## 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
Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a coppertransporting adenosine triphosphatase. A molecular diagnosis was performed on 135 patients with Wilson disease in Taiwan. We identified 36 different mutations, eight of which were novel: five missense mutations (Ser