Browsing Scopus İndeksli Yayınlar Koleksiyonu by Subject "1 Alpha Hydroxylase"
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Genetic and clinical characteristics of patients with vitamin D dependent rickets type 1A
(Galenos Yayincilik, 2019)Objective: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1 alpha-hydroxylase gene (CYB27B1). As it may be confused with nutritional rickets and hypophosphatemic ...