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Article

Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.

The European respiratory journal - 1 Jun 2001

Massie R J, Poplawski N, Wilcken B, Goldblatt J, Byrnes C, Robertson C

Abstract excerpt

Compound heterozygotes for a severe cystic fibrosis transmembrane conductance regulator (CFTR) mutation and the R117H or R117C mutation (R117H/C) have clinical presentations that vary from classic cystic fibrosis (CF) to an incidental genetic finding. The aim of this study was to assess the influence of the intron-8 polythvmidine sequence (IVS8) on the relationship between genotype and phenotype of individuals...

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Source

Identifiers

PMID: 11491164
DOI: 10.1183/09031936.01.00057001

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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Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.PMID 11491164Read ↗

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Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.Semantic proximity Read ↗

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