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Article

Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.

Human genetics - 1 Apr 1993

Dorval I, Odent S, Jezequel P, Journel H, Chauvel B, Dabadie A, Roussey M, Le Gall J Y, Le Marec B, David V

Abstract excerpt

The cystic fibrosis (CF) gene has been cloned and a major mutation identified (delta F508). This 3-bp deletion has been found in approximately 70% of CF chromosomes. We have used the strategy of denaturing gradient gel electrophoresis followed by direct sequencing of the polymerase chain reaction products, in order to detect other mutations in exons 10, 11 and 20 of the CF transmembrane conductance regulator...

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Source

Identifiers

PMID: 8097485
DOI: 10.1007/BF00218266

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.PMID 8097485Read ↗

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