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Article

Genotype-phenotype correlations in cystic fibrosis: clinical severity of mutation S549R(T-->G).

The European respiratory journal - 1 Jan 1999

Frossard P M, Hertecant J, Bossaert Y, Dawson K P

Abstract excerpt

With a view to assessing genotype-to-phenotype correlations in cystic fibrosis (CF), the clinical presentation of CF children from the United Arab Emirates (UAE) who were homozygous for cystic fibrosis transmembrane conductance regulator (CFTR) mutation S549R(T-->G was investigated. This mutation is localized in intron 11 (nucleotide binding domain 1 of the CFTR protein) and had so far been described as a private...

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Source

Identifiers

PMID: 10836331
DOI: 10.1183/09031936.99.13110099

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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