Morbus Wilson: identification of three additional novel mutations in the ATPase 7B gene
β Scribed by C. Buettner; J. Genschel; G. Sommer; A. Czlonkowska; B. Tarnacka; H. Lochs; H.H.J. Schmidt
- Book ID
- 118564523
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 136 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0168-8278
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π SIMILAR VOLUMES
Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.
## Communicated by Jurgen Horst Wilson disease (WND), an autosomal recessive disorder of copper transport, is characterized by excessive accumulation of intracellular copper in liver and extrahepatic tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ce