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1391 PHENOTYPE–GENOTYPE CORRELATIONS IN SIBLINGS OF INDEX PATIENTS WITH WILSON DISEASE

✍ Scribed by Hofer, H.; Weiss, K.H.; Willheim, C.; Houwen, R.; Szalay, F.; Pop, T.L.; Bruha, R.; Müller, T.; Stremmel, W.; Ferenci, P.

Book ID: 123105451
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 71 KB
Volume: 58
Category: Article
ISSN: 0168-8278
DOI: 10.1016/S0168-8278(13)61390-2

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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