佝偻病
医学
维生素D与神经学
突变
维生素
基因
基因突变
内科学
遗传学
内分泌学
生物
作者
Weiwei Hu,Yingying Ke,Jia He,Wen‐Zhen Fu,Chun Wang,Hao Zhang,Hua Yue,Juan Gu,Zhen‐Lin Zhang
标识
DOI:10.1515/jpem-2013-0183
摘要
Objectives: Mutations in the CYP27B1 gene, which encodes vitamin D 1α-hydroxylase, are the genetic basis of vitamin D-dependent rickets type 1A (VDDR1A, MIM 264700). The aim of this study was to investigate a novel CYP27B1 mutation and its clinical manifestations.
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