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Article

A new polymorphism in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene.

Human genetics - 1 Apr 1995

Petreska L, Koceva S, Gordova-Muratovska A, Efremov G D

Abstract excerpt

Here we describe a new polymorphism, located in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene at nucleotide position 1104 (C-->G), detected by a single-strand conformational polymorphism (SSCP) analysis.

Topics

Alleles
Base Sequence
Child, Preschool
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
DNA Primers
Exons
Female
Gene Frequency
Humans
Membrane Proteins
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Polymorphism, Genetic

Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 7535746
DOI: 10.1007/BF00208980

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7535746-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A new polymorphism in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene.PMID 7535746Read ↗

Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.Semantic proximity Read ↗

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Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.Semantic proximity Read ↗

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