Neurological manifestations and ATP7B mutations in Wilson's disease
✍ Scribed by Alexandre Aluizio Costa Machado; Marta Mitiko Deguti; Janine Genschel; Eduardo Luiz Rachid Cançado; Bettina Bochow; Hartmut Schmidt; Egberto Reis Barbosa
- Book ID
- 116820391
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 101 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1353-8020
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We characterized microsatellite marker haplotypes and identified mutations in members of 19 ethnically diverse Israeli families affected by Wilson disease (WD). Eighteen unique haplotypes were derived from allelic combinations for four marker loci spanning the WD gene, ATP7B, at chromosome 13q14.3:
The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified. This study aimed to detect disease-causing mutations, to clarify their freq