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Article

[Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes].

Genetika - 1 Jul 2012

Stepanova A A, Abrukova A V, Savaskina E N, Poliakov A V

Abstract excerpt

Molecular genetic study of the CFTR gene in cystic fibrosis patients from the Chuvash Republic is presented. We found linkage disequilibrium of the disease with 22-7-16-13 haplotype using intragenic markers. Major mutation p.E92K was revealed in chromosomes carrying this haplotype. The frequency...

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Source

Identifiers

PMID: 22988772

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22988772-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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