Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A

Objective:Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1α-hydroxylase gene (CYB27B1). As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis.Methods:We ana...

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Main Authors: Fatma Dursun (Author), Gamze Özgürhan (Author), Heves Kırmızıbekmez (Author), Ece Keskin (Author), Bülent Hacıhamdioğlu (Author)
Format: Book
Published: Galenos Yayincilik, 2019-03-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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