A clinical case of cystic fibrosis patient with pathogenic N1303K genotype variant with assessment of the CFTR channel function by intestinal current measurement and forskolin-induced swelling in rectal organoids

Rationale: Cystic fibrosis is a common monogenic disease related to pathogenic nucleotide sequence variants in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) (ABCC7) gene. The CFTR gene consists of 27 exons and is located in the 31.1 region on the long arm of chromosome 7 (7q31.1). T...

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Главные авторы:	E. I. Kondratyeva, N. D. Odinaeva, V. D. Sherman, A. S. Efremova, Yu. L. Melyanovskaya, N. V. Bulatenko, T. B. Bukharova, D. V. Goldshtein
Формат:	Artigo
Язык:	Russo
Опубликовано:	MONIKI 2021-07-01
Серии:	Alʹmanah Kliničeskoj Mediciny
Предметы:	cystic fibrosis cftr genetic variants intestinal current measurement intestinal organoids forskolin-induced swelling assay targeted therapy
Online-ссылка:	https://www.almclinmed.ru/jour/article/view/1457
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