Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A-Reference-Cited by-同舟云学术

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Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A

Published:2015-07-01 Issue:7 Volume:10 Page:e0131376
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Demir Korcan,Kattan Walaa E.,Zou Minjing,Durmaz Erdem,BinEssa Huda,Nalbantoğlu Özlem,Al-Rijjal Roua A.,Meyer Brian,Özkan Behzat,Shi Yufei

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference35 articles.

1. Vitamin D deficiency;MF Holick;N Engl J Med,2007

2. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase;JB Cheng;Proc Natl Acad Sci U S A,2004

3. CYP3A4 is a vitamin D-24- and 25-hydroxylase: analysis of structure function by site-directed mutagenesis;RP Gupta;J Clin Endocrinol Metab,2005

4. Genetics of vitamin D biosynthesis and its disorders;WL Miller;Best Pract Res Clin Endocrinol Metab,2001

5. Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency;AN Al Mutair;J Clin Endocrinol Metab,2012

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1. A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges;Hormones;2024-07-22

2. Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations;American Journal of Medical Genetics Part A;2024-06

3. Vitamin D hydroxylation–deficient rickets, type 1A;Feldman and Pike's Vitamin D;2024

4. Impact of vitamin D resistance genes on vitamin D deficiency during pregnancy among the South Indian population;Journal of Reproductive Immunology;2023-12

5. Vitamin D: An Overview of Gene Regulation, Ranging from Metabolism to Genomic Effects;Genes;2023-08-25

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