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Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

✍ Scribed by de Bie, P; Muller, P; Wijmenga, C; Klomp, L W J


Book ID
119967947
Publisher
BMJ Publishing Group
Year
2007
Tongue
English
Weight
839 KB
Volume
44
Category
Article
ISSN
0022-2593

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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