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Article

Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity.

Blood cells, molecules & diseases - 1 Jan 2000

Lee Pauline, Waalen Jill, Crain Karen, Smargon Aaron, Beutler Ernest

Abstract excerpt

A common polymorphism in the chitotriosidase gene (CHIT1) exists in which a 24 bp duplication in exon 10 results in aberrant splicing and deletion of 87 nucleotides. In this study, the gene frequency was found to be 0.56 (n=2054) in subjects of Asian ancestry, 0.17 (n=984) in subjects of European ancestry and 0.07 (n=536) in subjects of African ancestry. Notably, the median enzyme activity in wild-type subjects...

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Identifiers

PMID: 17693102
DOI: 10.1016/j.bcmd.2007.06.013
PMCID: PMC2696477

Genes

CHIT1

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