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The deletion F508 is the major gene mutation in a representative Belgian cystic fibrosis population

✍ Scribed by Maryse Bonduelle; Willy Lissens; Anne Malfroot; Isi Dab; Inge Liebaers


Publisher
Springer
Year
1990
Tongue
English
Weight
203 KB
Volume
85
Category
Article
ISSN
0340-6717

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The major cystic fibrosis mutation in a
✍ C. J. McMahon; S. A. Genet; H. R. Middleton-Price; P. Rutland; M. E. Pembrey; S. πŸ“‚ Article πŸ“… 1990 πŸ› Springer 🌐 English βš– 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

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Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population. The disease can be caused by one of the more than 900 different mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. However, the deletion of the phe508-codon is the most pre