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...
| Autors principals: | , , , , |
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| Format: | Article |
| Idioma: | English |
| Publicat: |
Galenos Yayincilik
2019-03-01
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| Col·lecció: | JCRPE |
| Matèries: | |
| Accés en línia: |
http://www.jcrpe.org/archives/archive-detail/article-preview/genetic-and-clinical-characteristics-of-patients-w/19707
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