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...

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Enregistré dans:
Détails bibliographiques
Publié dans:PLoS One
Auteurs principaux: Demir, Korcan, Kattan, Walaa E., Zou, Minjing, Durmaz, Erdem, BinEssa, Huda, Nalbantoğlu, Özlem, Al-Rijjal, Roua A., Meyer, Brian, Özkan, Behzat, Shi, Yufei
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2015
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4489500/
https://ncbi.nlm.nih.gov/pubmed/26132292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0131376
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