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Article

Chitotriosidase gene polymorphisms and mutations limit the determination of chitotriosidase expression in sarcoidosis.

Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2021

Csongrádi Alexandra, Altorjay István T, Fülöp Gábor Á, Enyedi Attila, Enyedi Enikő E, Hajnal Péter, Takács István, Tóth Attila, Papp Zoltán, Fagyas Miklós

Abstract excerpt

Serum chitotriosidase (CTO) activity was proposed as a biomarker in sarcoidosis being potentially useful in diagnostics. Nevertheless, a common duplication polymorphism (c.1049_1072dup24, Dup24) of the CTO gene influences CTO activity and thereby compromises its use in sarcoidosis. Here we aimed to substitute CTO activity with CTO concentration to prevent the confounding effect of Dup24. CTO activity,...

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PMID: 33307063
DOI: 10.1016/j.cca.2020.11.025

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