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A comparison of the mutation spectra of Menkes disease and Wilson disease

โœ Scribed by Gloria Hsi; Diane W. Cox


Book ID
106133915
Publisher
Springer
Year
2004
Tongue
English
Weight
286 KB
Volume
114
Category
Article
ISSN
0340-6717

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Wilson disease (WD) is an autosomal recessive disease of copper transport. The disease is caused by a large number of mutations in the ATP7B gene, some of which appear to be population specific, whereas others are found in probands from a variety of different ethnic backgrounds. This study presents