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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	E. I. Kondratyeva, N. D. Odinaeva, V. D. Sherman, A. S. Efremova, Yu. L. Melyanovskaya, N. V. Bulatenko, T. B. Bukharova, D. V. Goldshtein
Médium:	Artigo
Jazyk:	Russo
Vydáno:	MONIKI 2021-07-01
Edice:	Alʹmanah Kliničeskoj Mediciny
Témata:	cystic fibrosis cftr genetic variants intestinal current measurement intestinal organoids forskolin-induced swelling assay targeted therapy
On-line přístup:	https://www.almclinmed.ru/jour/article/view/1457
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!