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Article

A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.

Journal of medical genetics - 1 May 1994

Chillón M, Casals T, Giménez J, Nunes V, Estivill X

Abstract excerpt

We report the identification of a new frameshift mutation (936delTA) in exon 6b of the CFTR gene. In the screening of 486 unrelated Spanish CF patients we found a patient homozygous for 936delTA (with consanguineous parents) and a patient heterozygous for delta F508 and 936delTA. Genotype-phenotype correlation studies showed that 936delTA is associated with pancreatic insufficiency and chronic pulmonary colonisation.

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Source

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Identifiers

PMID: 8064813
DOI: 10.1136/jmg.31.5.369
PMCID: PMC1049867

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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