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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Autors principals:	E. I. Kondratyeva, N. D. Odinaeva, V. D. Sherman, A. S. Efremova, Yu. L. Melyanovskaya, N. V. Bulatenko, T. B. Bukharova, D. V. Goldshtein
Format:	Artigo
Idioma:	Russo
Publicat:	MONIKI 2021-07-01
Col·lecció:	Alʹmanah Kliničeskoj Mediciny
Matèries:	cystic fibrosis cftr genetic variants intestinal current measurement intestinal organoids forskolin-induced swelling assay targeted therapy
Accés en línia:	https://www.almclinmed.ru/jour/article/view/1457
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