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Article

Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population.

Genetic testing and molecular biomarkers - 1 Jan 2016

Motlagh Behrooz, Taghikhani Mohammad, Khatami Shohreh, Zamanfar Daniel

Abstract excerpt

BACKGROUND: The human chitinase chitotriosidase enzyme, which is encoded by the CHIT1 gene, is produced by macrophages, and may be important in immune responses to chitin-containing organisms, such as fungi. Plasma chitotriosidase activity is used to diagnose and monitor some forms of lysosomal storage disorders, such as Gaucher's and Niemann-Pick disease. However, homozygous duplication of a 24-bp region in exon...

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Identifiers

PMID: 26624962
DOI: 10.1089/gtmb.2015.0116

Genes

CHIT1

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Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population.PMID 26624962Read ↗

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