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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 chromosomes. Among these we have detected seven novel CFTR mutations, including four missense (G85V, T582R, R851L and...

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Identifiers

PMID: 9439669
DOI: 10.1007/s004390050643

Genes

CFTR

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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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