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Article

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

Clinical chemistry - 1 Nov 1991

Cremonesi L, Seia M, Magnani C, Ferrari M

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Share to Base Sequence
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutagenesis, Site-Directed

Share to Polymerase Chain Reaction

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 1718633

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapid detection of 1717-1G----A mutation in CFTR gene by PCR-mediated site-directed mutagenesis.PMID 1718633Read ↗

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

Identification of the L927P and delta L1260 mutations in the CFTR gene.Semantic proximity Read ↗

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

Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesis.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 ↗

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 ↗

Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).Semantic proximity Read ↗

Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

Single-tube method for determination of F508del genotype in the CFTR gene using bidirectional PCR amplification of specific alleles.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 ↗

A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.Semantic proximity Read ↗

A donor splice site mutation (1811 + 1G-->C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin.Semantic proximity Read ↗

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