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1058 Phenotype-genotype correlations in patients with Wilson disease (WD)

✍ Scribed by FERENCI, P; SCHAFER, M; SZALAY, F; KUPCOVA, V; CACA, K; DEMIR, K; VOGEL, W; DATZ, C; FEVERY, J; YURDAYDIN, C

Book ID: 122616462
Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 92 KB
Volume: 38
Category: Article
ISSN: 0270-9139
DOI: 10.1016/S0270-9139(03)81096-0

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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