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 chromosome and the child was doubly deleted. In only 4 families, 2 of them being consanguineous, did neither parent carry a...
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