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A Novel G102E Mutation of CYP27B1 in a Large Family with Vitamin D-Dependent Rickets Type 1

10 Jun 2010

Abstract excerpt

CONTEXT: Mutations in the CYP27B1 gene, which encodes vitamin D 1alpha-hydroxylase, are the genetic basis for vitamin D-dependent rickets type 1 (VDDR-I). OBJECTIVE: The aim of this study was to investigate the CYP27B1 mutation in a large family with VDDR-I and characterize the genotype-phenotype correlation. PATIENTS AND METHODS: The index patient was a 23-yr-old female who had a progressive form of rickets and...

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PMID: 20534770
DOI: 10.1210/jc.2009-2278

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