Article
Analysis of 14 cystic fibrosis mutations in five south European populations.
Human genetics - 1 Oct 1991
Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sangiuolo F, Balassopoulou A, Giménez F J, Dognini M, Ravnik-Glavac M
Abstract excerpt
We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from delta F508, were G542X (6.04%), R1162X (3.61%) and N1303K (3.24%). Each of the other analysed mutations were present at a frequency of less than 1% (R347P, R334W, S549RA, S549I, G551D, R553X and W1282X), and four mutations (D110H,...
Topics
- Albania
- Cystic Fibrosis
- Greece
- Humans
- Italy
- Mutation
- Spain
- Yugoslavia