Article
SMPD1 gene variants in patients with β-Thalassemia major.
Molecular biology reports - 1 Apr 2023
Dursun Fadime Ersoy, Özen Filiz
Abstract excerpt
BACKGROUND: β-thalassemia major and Niemann-Pick diseases have similar clinical and laboratory findings. We aimed to investigate the effects of sphingomyelin phosphodiesterase 1 (SMPD1) gene variants on the clinical and laboratory findings in patients with β-thalassemia major. METHODS AND RESULTS: This study included 45 patients who were followed up for β-thalassemia major in our clinic. Plasma chitotriosidase,...
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