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Article

First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene: identification of a loss-of-function variant.

Human mutation - 1 Jan 2004

Cauffiez Christelle, Lo-Guidice Jean-Marc, Chevalier Dany, Allorge Delphine, Hamdan Rima, Lhermitte Michel, Lafitte Jean-Jacques, Colombel Jean-Frédéric, Libersa Christian, Broly Franck

Abstract excerpt

In the present study, we report the first investigation of polymorphisms in the human CYP3A43 gene. A screening for sequence variations in the 5'-flanking and protein coding regions of the CYP3A43 gene was performed by a Polymerase Chain Reaction - Single Strand Conformational Polymorphism (PCR-SSCP) strategy, using DNA samples from 48 unrelated French individuals. Three polymorphisms in the coding region were...

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PMID: 14695544
DOI: 10.1002/humu.9211

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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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