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Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations.

Molecular biology reports - 1 Jun 2022

Gezgin Yüksel, Kırnaz Berkay, Berdeli Afig

Abstract excerpt

BACKGROUND: OTULIN-related autoinflammatory syndrome (ORAS) is an autosomal recessive disease characterized by systemic inflammation, recurrent fever. Due to limited knowledge about the OTULIN DNA variants that cause ORAS, the diagnosis and treatment of this disease is difficult. In this study, we aim to identify OTULIN DNA variants responsible for the genetic pathology of ORAS and observe the effects of these...

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PMID: 35294702
DOI: 10.1007/s11033-022-07312-5

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