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Article

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.

Human mutation - 1 Jan 1996

Morral N, Dörk T, Llevadot R, Dziadek V, Mercier B, Férec C, Costes B, Girodon E, Zielenski J, Tsui L C, Tümmler B, Estivill X

Abstract excerpt

We have analyzed 416 normal and 467 chromosomes carrying 94 different cystic fibrosis (CF) mutations with polymorphic genetic markers J44, IVS6aGATT, IVS8CA, T854, IVS17BTA, IVS17BCA, and TUB20. The number of mutations found with each haplotype is proportional to its frequency among normal chromosomes, suggesting that there is no preferential haplotype in which mutations arise and thus excluding possible...

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Source

Identifiers

PMID: 8844213
DOI: 10.1002/(SICI)1098-1004(1996)8:2<149::AID-HUMU7>3.0.CO;2-6

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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