Nat Genet. 1992 Jun;1(3):188-91.

Detection of over 98% cystic fibrosis mutations in a Celtic population.

Férec C, Audrezet MP, Mercier B, Guillermit H, Moullier P, Quere I, Verlingue C.

Source

Centre de Biogénétique, Centre Départemental de Transfusion Sanguine, Brest, France.

Abstract

We have conducted a large systematic study of 365 cystic fibrosis (CF) chromosomes in a Celtic population from Brittany, France, in which we have been able to identify more than 98% of the cystic fibrosis gene mutations. We detected 19 different CFTR mutations located in 9 exons. Eleven of these mutations have not been described previously and nine of them are presented in this study. The denaturing gradient gel electrophoresis strategy we have used, can be applied to other populations suggesting that population screening for CF on a large scale might be possible.

PMID:: 1284639; [PubMed - indexed for MEDLINE]

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Cited by 21 PubMed Central articles

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