Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene.
Clin Genet
; 53(3): 202-4, 1998 Mar.
Article
em En
| MEDLINE
| ID: mdl-9630075
ABSTRACT
We describe a congenital bilateral absence of the vas deferens (CBAVD) patient with a compound heterozygosity in the cystic fibrosis transmembrane regulator (CFTR) gene for a stop mutation W1282X and a new missense mutation P499A. The P499A is interpreted as a mild mutation whose phenotypic effects, in this case limited to the development of wolffian duct derivatives, are revealed only in combination with a severe CFTR mutation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ducto Deferente
/
Regulador de Condutância Transmembrana em Fibrose Cística
/
Mutação
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Itália