The major cystic fibrosis mutation in a
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C. J. McMahon; S. A. Genet; H. R. Middleton-Price; P. Rutland; M. E. Pembrey; S.
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Article
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1990
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Springer
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English
⚖ 152 KB
We have studied 72 families with at least one child with cystic fibrosis (CF); they were referred because they had requested pre-natal diagnosis in a future pregnancy. The AF508 mutation was found in 108/140 CF chromosomes (77%). In 41/72 families (57%), both parents carried a deleted chromosome and