Referenced in: none

Automatically associated channels: Kir2.3

Title: Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

Authors: M B White, L J Krueger, D S Holsclaw, B C Gerrard, C Stewart, L Quittell, G Dolganov, V Baranov, T Ivaschenko, N I Kapronov

Journal, date & volume: Genomics, 1991 May , 10, 266-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/1710600

Abstract
We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the insertion of a cytosine nucleotide in exon 13 in an Italian patient (CF2522insC), and the third results from the deletion of a thymidine nucleotide in exon 19 in a Soviet patient (CF3821delT). Each mutation is predicted to result in premature termination of the CFTR protein.