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Article

Identification of the L927P and delta L1260 mutations in the CFTR gene.

Human molecular genetics - 1 Jul 1994

Hermans C J, Veeze H J, Drexhage V R, Halley D J, van den Ouweland A M

Abstract excerpt

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Topics

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Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to DNA Mutational Analysis
Share to Infant

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Point Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to Sequence Deletion

Source

Identifiers

PMID: 7526927
DOI: 10.1093/hmg/3.7.1199

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→

Click a neighbor to travelStep 1 · 12 closest

Identification of the L927P and delta L1260 mutations in the CFTR gene.PMID 7526927Read ↗

Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.Semantic proximity Read ↗

Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.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 ↗

Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).Semantic proximity Read ↗

Rapid detection of 1717-1G----A mutation in CFTR gene by PCR-mediated site-directed mutagenesis.Semantic proximity Read ↗

Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.Semantic proximity Read ↗

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR geneSemantic proximity Read ↗

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read ↗

K162E - A rare and uncategorized CFTR variant causing cystic fibrosis.Semantic proximity Read ↗

Relationship between genotype and phenotype for the CFTR gene W846X mutation.Semantic proximity Read ↗

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

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