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Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers

OBJECTIVE: Chitotriosidase (CT) activity is a useful biomarker for diagnosis and monitoring of Gaucher disease (GD). Its application is limited by some variants in the CT gene. Two main polymorphisms are 24 bp duplication and G102S led to reduce CT activity. The aim of this study was to determine th...

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Pubblicato in:Iran J Child Neurol
Autori principali: MOZAFARI, Hadi, TAGHIKHANI, Mohammad, KHATAMI, Shohreh, ALAEI, Mohammad Reza, VAISI-RAYGANI, Asad, RAHIMI, Zohreh
Natura: Artigo
Lingua:Inglês
Pubblicazione: Shahid Beheshti University of Medical Sciences 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5100039/
https://ncbi.nlm.nih.gov/pubmed/27843468
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