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Article

An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.

Human mutation - 1 Jan 1993

Smit L S, Nasr S Z, Iannuzzi M C, Collins F S

Abstract excerpt

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Share to Black or African American
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Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

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

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Source

Identifiers

PMID: 7686423
DOI: 10.1002/humu.1380020217

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

An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.PMID 7686423Read ↗

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Features of CFTR mRNA and implications for therapeutics developmentSemantic proximity Read ↗

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The pathogenic consequences of a single mutated CFTR gene.Semantic proximity Read ↗

c.3623G > A mutation encodes a CFTR protein with impaired channel function.Semantic proximity Read ↗

mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity.Semantic proximity Read ↗

Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene.Semantic proximity Read ↗

Novel frameshift variant of the CFTR gene: S511Lfs*2 from phenotype to molecular predictions.Semantic proximity Read ↗

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