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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.

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Source

Identifiers

PMID: 7535746
DOI: 10.1007/BF00208980

Genes

CFTR

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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

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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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Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

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A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.Semantic proximity Read ↗

A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.Semantic proximity Read ↗

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