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Cystic fibrosis in a low-incidence population: two major mutations in Finland

✍ Scribed by Juha Kere; Xavier Estivill; Miguel Chillón; Núria Morral; Virginia Numes; Reijo Norio; Erkki Savilahti; Albert Chapelle


Publisher
Springer
Year
1994
Tongue
English
Weight
406 KB
Volume
93
Category
Article
ISSN
0340-6717

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✍ C. J. McMahon; S. A. Genet; H. R. Middleton-Price; P. Rutland; M. E. Pembrey; S. 📂 Article 📅 1990 🏛 Springer 🌐 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