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Article

A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.

Journal of medical genetics - 1 Dec 1991

Schloesser M, Arleth S, Lenz U, Bertele R M, Reiss J

Abstract excerpt

A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele interactions.

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Source

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Identifiers

PMID: 1757966
DOI: 10.1136/jmg.28.12.878
PMCID: PMC1017168

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.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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