[Modifier genes and cystic fibrosis]. / Les gènes modificateurs dans la mucoviscidose.
Arch Pediatr
; 13(1): 57-63, 2006 Jan.
Article
em Fr
| MEDLINE
| ID: mdl-16274977
ABSTRACT
Cystic fibrosis is the most common lethal autosomal recessive disease among the Caucasian population. It is caused by defects in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator). Although over 1600 disease-causing mutations in the CFTR gene have been described, the highly variable disease phenotype in cystic fibrosis cannot be explained on the basis of this gene alone. Both the environment and other non-CFTR genes are likely to be important. The increased understanding of pathophysiological processes in the cystic fibrosis lung has led to several studies on genes in these pathways. One of the major aims of such studies is to produce targets for novel drug developments.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Regulador de Condutância Transmembrana em Fibrose Cística
/
Fibrose Cística
Limite:
Child
/
Humans
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
França