Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.

doi:10.1002/(SICI)1098-1004(1997)10:2<135::AID-HUMU6>3.0.CO;2-J

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Article

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.

Human mutation - 1 Jan 1997

Estivill X, Bancells C, Ramos C

Abstract excerpt

The geographic distribution of 272 cystic fibrosis (CF) mutations has been studied by assessing the origin of 27,177 CF chromosomes from 29 European countries and three countries from the North of Africa. The most common mutations are delta F308 (66.8%), G542X (2.6%), N1303K (1.6%), G551D (1.5%)...

Topics

Africa, Northern
Cystic Fibrosis
Europe
Gene Frequency
Genetic Variation
Genetics, Population
Heterozygote
Humans
Mutation

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