𝔖 Bobbio Scriptorium
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FABRY DISEASE: GENOTYPE-PHENOTYPE STUDIES; EPIDEMIOLOGY; SCREENING AND MANAGEMENT

Book ID
114814657
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
481 KB
Volume
96
Category
Article
ISSN
0803-5253

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Mutation screening and genotype-phenotyp
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✍ Muriel Bost; Alain Lachaux; MichΓ¨le Accominotti; Antoon Vandenberghe πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 36 KB πŸ‘ 2 views

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