The spectrum of cystic fibrosis mutations.
Trends Genet
; 8(11): 392-8, 1992 Nov.
Article
em En
| MEDLINE
| ID: mdl-1279852
ABSTRACT
Although the major mutation causing cystic fibrosis accounts for almost 70% of mutant chromosomes screened, almost 300 sequence alterations have been identified in the gene during the past two and a half years. At least 230 of these mutations are probably associated with disease. This rapid accumulation of data is in part due to the highly coordinated effort by members of the Cystic Fibrosis Genetic Analysis Consortium. The information is not only essential to genetic diagnosis, but also will aid in understanding the structure and function of the protein, and possibly in correlating genotype with phenotype.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fibrose Cística
/
Canais Iônicos
/
Proteínas de Membrana
Limite:
Humans
Idioma:
En
Revista:
Trends Genet
Assunto da revista:
GENETICA
Ano de publicação:
1992
Tipo de documento:
Article
País de afiliação:
Canadá