Article
A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.
Journal of medical genetics - 1 Sept 1994
Mercier B, Lissens W, Novelli G, Kalaydjieva L, de Arce M, Kapranov N, Canki Klain N, Estivill X, Palacio A, Cashman S
Abstract excerpt
Intensive screening has improved our understanding of the profile of mutations in the CFTR gene in which more than 400 mutations have been detected to date. In collaboration with several European laboratories we are involved in such analysis. We have identified 14 new mutations in exon 17b of CFTR, having analysed 780 CF chromosomes, and have compared the frequency of mutations in this exon with that of other...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Humans
- Membrane Proteins
- Mutation