A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
J Med Genet
; 28(12): 878-80, 1991 Dec.
Article
em En
| MEDLINE
| ID: mdl-1757966
ABSTRACT
A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele interactions.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fibrose Cística
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Male
/
Newborn
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
1991
Tipo de documento:
Article