Genotype–phenotype correlation of the Wilson disease ATP7B gene
✍ Scribed by Lorenzo Leggio; Giovanni Addolorato; Georgios Loudianos; Ludovico Abenavoli; Giovanni Gasbarrini
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 55 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
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📜 SIMILAR VOLUMES
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
Wilson disease (WD) is an autosomal recessive disorder of copper transport, manifesting as chronic liver disease and/or neurologic impairment due to accumulation of copper in several tissues, principally the liver and the brain. The WD gene encodes a copper transporting P-type ATPase that is defecti