Article
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.
Carbohydrate polymers - 26 Nov 2014
Manno N, Sherratt S, Boaretto F, Coico F Mejìa, Camus C Espinoza, Campos C Jara, Musumeci S, Battisti A, Quinnell R J, León J Mostacero, Vazza G, Mostacciuolo M L, Paoletti M G, Falcone F H
Abstract excerpt
The human genome encodes a gene for an enzymatically active chitinase (CHIT1) located in a single copy on Chromosome 1, which is highly expressed by activated macrophages and in other cells of the innate immune response. Several dysfunctional mutations are known in CHIT1, including a 24-bp duplication in Exon 10 causing catalytic deficiency. This duplication is a common variant conserved in many human...
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