Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families.

The identification of a common mutation, delta F508, in the CFTR gene allowed, for the first time, the detection of cystic fibrosis (CF) carriers in the general population. Further genetic studies revealed > 100 additional disease-causing mutations in this gene, few of which occur on > 1% of C...

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Detalhes bibliográficos
Main Authors: Ober, C, Lester, L A, Mott, C, Billstrand, C, Lemke, A, van der Ven, K, Marcus, S, Kraut, J, Lloyd-Still, J, Booth, C
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682924/
https://ncbi.nlm.nih.gov/pubmed/1281385
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