Referenced in: none

Automatically associated channels: Kir2.3

Title: Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.

Authors: C Verlingue, N I Kapranov, B Mercier, E K Ginter, N V Petrova, M P Audrezet, C Ferec

Journal, date & volume: Hum. Mutat., 1995 , 5, 205-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/7541273

Abstract
To date, a large number of mutations causing the disease, cystic fibrosis, have been reported worldwide. Having analysed the coding sequence of a sample of cystic fibrosis (CF) patients from Russia, we have identified three novel CF mutations. Two of them, 175 del C in exon 1 and 624 del T in exon 5, are frameshift mutations, predicted to result in premature termination of the CFTR transcript. The third mutation is missense and occurs in exon 12 (D572N). The profile of mutations in this sample of Russian CF patients is particular, with two mutations in exon 13 (2143 del T and 2184 ins A), accounting for 12% of the non-delta F508 alleles.