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Article

Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

American journal of human genetics - 1 Nov 1994

Morral N, Llevadot R, Casals T, Gasparini P, Macek M, Dörk T, Estivill X

Abstract excerpt

Microsatellite analysis of chromosomes carrying particular cystic fibrosis mutations has shown different haplotypes in four cases: R334W, R347P, R1162X, and 3849 + 10kbC-->T. To investigate the possibility of recurrence of these mutations, analysis of intra- and extragenic markers flanking these mutations has been performed. Recurrence is the most plausible explanation, as it becomes necessary to postulate either...

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Source

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Identifiers

PMID: 7526685
PMCID: PMC1918346

Genes

CFTR

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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