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Article

CHIT1 genetic defects in the Portuguese population.

Blood cells, molecules & diseases - 1 Jan 2013

Duarte Ana Joana, Ribeiro Diogo, Amaral Olga

Abstract excerpt

Chitotriosidase is an enzyme secreted by activated macrophages and a useful biomarker in several lysosomal and nonlysosomal diseases. However, chitotriosidase gene (CHIT1) mutations may lead to inaccuracy in the significance of this biomarker. Reports on the molecular spectrum of genetic variation in chitotriosidase are rare, and this is one of the few that focus on a specific population group. In this work we...

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Source

Identifiers

PMID: 22959626
DOI: 10.1016/j.bcmd.2012.08.008

Genes

CHIT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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