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Article

A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.

Human mutation - 1 Jan 1994

Dörk T, Will K, Grade K, Krawczak M, Tümmler B

Abstract excerpt

Cystic fibrosis, a common recessive disorder of exocrine glands, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We describe the identification of a 32-bp deletion within the coding region of CFTR that involves the nucleotides 2991-3022 in exon 15 (2991del32). This unusual frameshift mutation was confirmed in three unrelated German families, accounting for a...

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Identifiers

PMID: 7524915
DOI: 10.1002/humu.1380040111

Genes

CFTR

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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.

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A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.PMID 7524915Read ↗

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