Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.

doi:10.1002/humu.1380010505

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Article

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.

Human mutation - 1 Jan 1992

Nunes V, Casals T, Gaona A, Antiñolo G, Ferrer-Calvete J, Pérez-Frias J, Tardío E, Molano J, Estivill X

Abstract excerpt

The majority of the identified cystic fibrosis (CF) mutations are very uncommon in the total patient population, making the correlation between the clinical presentation and the molecular alterations difficult. The largest deletion that has been described so far in CF is of 84 bp in exon 13, which corresponds to the regulatory (R) domain of the CF transmembrane conductance regulator (CFTR) protein. We have...

Topics

Adolescent
Base Sequence
Child, Preschool
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
DNA Mutational Analysis
Exons
Female
Heterozygote
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Infant

Male

Membrane Proteins

Molecular Sequence Data

Phenotype

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 1284539
DOI: 10.1002/humu.1380010505

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1284539-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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