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Article

Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.

Clinical biochemistry - 1 Aug 2016

Mavrikiou Gavriella, Petrou Petros, Georgiou Theodoros, Drousiotou Anthi

Abstract excerpt

OBJECTIVES: The purpose of this study was to determine the normal range of chitotriosidase activity in the Cypriot population and the frequency of the 24bp duplication polymorphism. Furthermore, we compared the allele frequency of this polymorphism in two locations with different malaria endemicity in the past. DESIGN AND METHODS: Plasma chitotriosidase activity was measured using a fluorogenic substrate. The...

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Identifiers

PMID: 27129798
DOI: 10.1016/j.clinbiochem.2016.03.013

Genes

CHIT1

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