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Article

G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.

Human molecular genetics - 1 Mar 1994

Savov A, Jordanova A, Gavrilov D, Angelicheva D, Kalaydjieva L

Abstract excerpt

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Topics

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Share to Base Sequence
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 7516777
DOI: 10.1093/hmg/3.3.513

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.PMID 7516777Read ↗

A novel mutation (G1249R) in exon 20 of the CFTR gene.Semantic proximity Read ↗

Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.Semantic proximity Read ↗

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.Semantic proximity Read ↗

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.Semantic proximity Read ↗

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.Semantic proximity Read ↗

A polymorphism in intron 20 of the CFTR gene.Semantic proximity Read ↗

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population.Semantic proximity Read ↗

A novel missense mutation, S1159F, in exon 19 of the CFTR gene.Semantic proximity Read ↗

A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

Analysis of five CFTR mutations in Hungarian cystic fibrosis patients.Semantic proximity Read ↗

A comprehensive CFTR mutation analysis of German cystic fibrosis patients.Semantic proximity Read ↗

Missense variation of the CFTR gene codon 507.Semantic proximity Read ↗

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