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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	E. I. Kondratyeva, N. D. Odinaeva, V. D. Sherman, A. S. Efremova, Yu. L. Melyanovskaya, N. V. Bulatenko, T. B. Bukharova, D. V. Goldshtein
Formato:	Artigo
Idioma:	Russo
Publicado em:	MONIKI 2021-07-01
coleção:	Alʹmanah Kliničeskoj Mediciny
Assuntos:	cystic fibrosis cftr genetic variants intestinal current measurement intestinal organoids forskolin-induced swelling assay targeted therapy
Acesso em linha:	https://www.almclinmed.ru/jour/article/view/1457
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!