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Lethal very long-chain acyl-coa dehydrogenase deficiency with a novel mutation
(Gazi University, 2019)
Very long chain acyl-CoA dehydrogenase deficiency is an autosomal recessive genetic disorder in which the first step in the mitochondrial beta-oxidation of fatty acids for 14-20 carbons is defective. Clinical presentation ...
Investigation of beta globin gene mutations in Syrian refugee patients with thalassemia major
(De Gruyter, 2019)
Objectives: This study, detection of beta globin gene mutations in thalassemia major patients who migrated from Syria to Kahramanmaraş region were planned. Materials and methods: The study included 35 Syrian national beta ...