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Article

Phenotypic variability in five cystic fibrosis patients compound heterozygous for the Y1092X mutation.

Human heredity - 1 Jan 2000

De Braekeleer M, Allard C, Leblanc J P, Simard F, Aubin G

Abstract excerpt

Five cystic fibrosis (CF) patients distributed in three families and compound heterozygotes for the Y1092X mutation have been followed for a period ranging from 5 to 20 years. The genealogical reconstruction identified a common ancestor couple to all 3 families at the 5th generation. All 5 patients were pancreatic insufficient. A high variability in the clinical aspects and pulmonary function was seen between the...

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Identifiers

PMID: 9618063
DOI: 10.1159/000022796

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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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