Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.
Hum Genet
; 98(6): 640-2, 1996 Dec.
Article
em En
| MEDLINE
| ID: mdl-8931691
ABSTRACT
This study reports 12 novel mutations of the Wilson disease (WD) gene which have been detected by the molecular analysis of 29 patients of Mediterranean descent carrying uncommon chromosomal haplotypes at the WD locus. These mutations include two nonsense, one splice site and nine missense. The missense mutations lie in regions of the WD gene critical for its function, such as the transmembrane region, the transduction domain and the ATP loop and ATP-binding domain, indicating that they are disease-causing mutations. These new findings improve our knowledge for the role played by functional domains on the ATP7B function.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Análise Mutacional de DNA
/
Degeneração Hepatolenticular
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
País/Região como assunto:
Asia
/
Europa
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Itália