The major cystic fibrosis mutation in a British population.

doi:10.1007/BF00197712

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Article

The major cystic fibrosis mutation in a British population.

Human genetics - 1 Dec 1990

McMahon C J, Genet S A, Middleton-Price H R, Rutland P, Pembrey M E, Malcolm S

Abstract excerpt

We have studied 72 families with at least one child with cystic fibrosis (CF); they were referred because they had requested prenatal diagnosis in a future pregnancy. The delta F508 mutation was found in 108/140 CF chromosomes (77%). In 41/72 families (57%), both parents carried a deleted chromos...

Topics

Cystic Fibrosis
Gene Frequency
Haplotypes
Humans
Mutation
United Kingdom

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