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Article

Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.

Human genetics - 1 Jun 1994

Audrézet M P, Canki-Klain N, Mercier B, Bracar D, Verlingue C, Férec C

Abstract excerpt

Chromosomes from a cohort of 60 Slovenian families, corresponding to the 121 cystic fibrosis (CF) chromosomes available, were fully scanned for mutations in the coding sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (The 60 families yielded 121 CF alleles because t...

Topics

Alleles
Base Sequence
Cohort Studies
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
Humans
Membrane Proteins
Molecular Sequence Data
Mutation
Slovenia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7516305
DOI: 10.1007/BF00201566

Genes

TAT
CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7516305-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.PMID 7516305Read ↗

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