Open AccessClinical and genetic features of cystic fibrosis patients with novel pathogenic variant CFTR c.1083G> A (p.Trp361*) and functional assessment of the activity of the chloride channel
Author(s) -
E.I. Kondratyeva,
Ю.Л. Мельяновская,
Anna Efremova,
N. Bulatenko,
Т. Б. Бухарова,
Н. В. Петрова,
A. Zodbinova,
В.Д. Шерман,
Н. Ю. Каширская,
V. Ledneva,
Л. В. Ульянова,
Р. А. Зинченко,
D. V. Goldshtein,
С. И. Куцев
Publication year - 2019
Publication title -
medicinskaâ genetika
Language(s) - English
Resource type - Journals
ISSN - 2073-7998
DOI - 10.25557/2073-7998.2019.09.9-18
Subject(s) - cystic fibrosis , medicine , cystic fibrosis transmembrane conductance regulator , newborn screening , nonsense mutation , mutation , gene , gastroenterology , biology , genetics , missense mutation , pediatrics