Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A
The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. To investigate CYP27B1 mutations, we studied 8 patients from 7 unrelated families. All coding exons and...
| Main Authors: | , , , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Public Library of Science
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489500/ |