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Article

[The mutation spectrum of the CFTR gene in mucoviscidosis patients from Bashkortostan].

Molekuliarnaia biologiia - 1 Jan 2000

Korytina G F, Viktorova T V, Ivashchenko T E, Baranov V S, Khusnutdinova E K

Abstract excerpt

Mutations of CFTR were studied in patients with cystic fibrosis (CF) from Bashkortostan. In total, 15 mutations were observed and 51% of all mutant alleles identified. The most diagnostically significant mutations were delF508 (33.8%), 394delTT (3.52%), CFTRdele2.3(21 kb) (1.41%), R334W (1.41%), 3849+ 10 kbC-->T (1.41%), and N1303K (1.41%). Mutations G542X, 2184insA, S1196X, and W1282X were each found in less...

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Identifiers

PMID: 12624947

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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