Article
Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.
PloS one - 1 Jan 2015
Demir Korcan, Kattan Walaa E, Zou Minjing, Durmaz Erdem, BinEssa Huda, Nalbantoğlu Özlem, Al-Rijjal Roua A, Meyer Brian, Özkan Behzat, Shi Yufei
Abstract excerpt
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 intron-exon boundaries of CYP27B1 gene were amplified by PCR from peripheral leukocyte DNA and subsequently...
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