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Article

Two cystic fibrosis patients with the genotype G542X/G551D.

Human genetics - 1 Mar 1993

Reiss J, Ellermeyer U, Schloesser M, Fuhrmann W, Drews D, Posselt H G

Abstract excerpt

Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations within exon 11 of the CFTR gene, the nonsense mutation G542X and the missense mutation G551D. Both patients exhibit a relatively benign clinical course. In the described patients, G542X functions as a "mild" allele and is, in this respect, dominant to the "severe" G551D.

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

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Source

Identifiers

PMID: 7681035
DOI: 10.1007/BF00230228

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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Two cystic fibrosis patients with the genotype G542X/G551D.PMID 7681035Read ↗

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Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.Semantic proximity Read ↗

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.Semantic proximity Read ↗

Mild clinical phenotype associated with R1158X/S549R(T-->G) CFTR genotype.Semantic proximity Read ↗

A cystic fibrosis patient homozygous for the nonsense mutation R553X.Semantic proximity Read ↗

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Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.Semantic proximity Read ↗

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