Search

Your search keyword '"Dolganov, G"' showing total 1 results
Start Over Author "Dolganov, G" Region ussr
1 results on '"Dolganov, G"'

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

Author

White MB, Krueger LJ, Holsclaw DS Jr, Gerrard BC, Stewart C, Quittell L, Dolganov G, Baranov V, Ivaschenko T, and Kapronov NI

Subjects
Adult, Africa ethnology, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Cystic Fibrosis ethnology, Cystic Fibrosis Transmembrane Conductance Regulator, DNA, Exons, Humans, Italy ethnology, Molecular Sequence Data, USSR ethnology, United States, Cystic Fibrosis genetics, Frameshift Mutation, Membrane Proteins genetics
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.

Published
1991
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results