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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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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