Browsing by Author "Kaymaz, Selin"

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The new CIC mutation associates with mental retardation and severity of seizure in Turkish child with a rare class I glucose-6-phosphate dehydrogenase deficiency

Alagöz, Meryem; Kherad, Nasim; Günger, Ezgi; Kaymaz, Selin; Yüksel, Adnan (Springer Nature Switzerland, 13.06.2020)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. Capicua transcriptional ...