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

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

doi:10.1371/journal.pone.0131376

Loading metrics

Open Access

Peer-reviewed

Research Article

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

Korcan Demir ,

Contributed equally to this work with: Korcan Demir, Walaa E. Kattan

Affiliation Division of Pediatric Endocrinology, Dr. Behçet Uz Children’s Hospital, İzmir, Turkey
⨯
Walaa E. Kattan ,

Contributed equally to this work with: Korcan Demir, Walaa E. Kattan

Affiliations College of Science and General Studies, Alfaisal University, Riyadh, Saudi Arabia, Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
⨯
Minjing Zou,

Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
⨯
Erdem Durmaz,

Affiliation Department of Pediatric Endocrinology, Sifa University, Bornova Health Application and Research Center, İzmir, Turkey
⨯
Huda BinEssa,

Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
⨯
Özlem Nalbantoğlu,

Affiliation Division of Pediatric Endocrinology, Dr. Behçet Uz Children’s Hospital, İzmir, Turkey
⨯
Roua A. Al-Rijjal,

Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
⨯
Brian Meyer,

Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
⨯
Behzat Özkan,

Affiliation Division of Pediatric Endocrinology, Dr. Behçet Uz Children’s Hospital, İzmir, Turkey
⨯
Yufei Shi

* E-mail: yufei@kfshrc.edu.sa

Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
⨯

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

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

Published: July 1, 2015
https://doi.org/10.1371/journal.pone.0131376

Reader Comments (0)

Post a new comment on this article

Subject Areas
?

For more information about PLOS Subject Areas, click here.
We want your feedback. Do these Subject Areas make sense for this article? Click the target next to the incorrect Subject Area and let us know. Thanks for your help!

Homozygosity
Is the Subject Area "Homozygosity" applicable to this article?

Thanks for your feedback.
Frameshift mutation
Is the Subject Area "Frameshift mutation" applicable to this article?

Thanks for your feedback.
Heterozygosity
Is the Subject Area "Heterozygosity" applicable to this article?

Thanks for your feedback.
Vitamin D
Is the Subject Area "Vitamin D" applicable to this article?

Thanks for your feedback.
Introns
Is the Subject Area "Introns" applicable to this article?

Thanks for your feedback.
Mutation detection
Is the Subject Area "Mutation detection" applicable to this article?

Thanks for your feedback.
Calcitriol
Is the Subject Area "Calcitriol" applicable to this article?

Thanks for your feedback.
Polymerase chain reaction
Is the Subject Area "Polymerase chain reaction" applicable to this article?

Thanks for your feedback.