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Article

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.

Human genetics - 1 Dec 1997

Casals T, Ramos M D, Giménez J, Larriba S, Nunes V, Estivill X

Abstract excerpt

We have analyzed 640 Spanish cystic fibrosis (CF) families for mutations in the CFTR gene by direct mutation analysis, microsatellite haplotypes, denaturing gradient gel electrophoresis, single-strand conformation analysis and direct sequencing. Seventy-five mutations account for 90.2% of CF chro...

Topics

Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Exons
Genetic Heterogeneity
Genotype
Humans
Introns
Mediterranean Region
Mutation
Phenotype
Point Mutation
RNA Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spain

Source

Identifiers

PMID: 9439669
DOI: 10.1007/s004390050643

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9439669-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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