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Molecular genetic analysis of Turkish Gaucher's disease patients reveals three novel variants in Glucocerebrosidase (GBA) gene
Önal, Gizem; Gümüş, Ersin; Demir, Hülya; Yüce, Aysel; Dökmeci, Serap Emre (Elsevier, 2020)Gaucher's disease (GD) is the most prevalent lysosomal storage disorder caused by the deficiency of beta-gluco-sylceramidase enzyme (EC 3.2.1.45) due to mutations in the GBA gene. To date, more than 400 GBA mutations have ...