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Article

A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.

Human genetics - 1 Nov 1992

Dörk T, Kälin N, Stuhrmann M, Schmidtke J, Tümmler B

Abstract excerpt

German patients with cystic fibrosis (CF) were screened for molecular lesions in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by single strand conformation polymorphism (SSCP) and chemical cleavage of mismatch analyses. Direct sequencing of four samples that displayed the same SSCP pattern and that were susceptible to cleavage of hetero-duplexes by osmium tetroxide revealed, in...

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Source

Identifiers

PMID: 1283149
DOI: 10.1007/BF00220079

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.

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A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.PMID 1283149Read ↗

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