CYP3A4 mutation causes vitamin D–dependent rickets type 3-Reference-Cited by-同舟云学术

CYP3A4 mutation causes vitamin D–dependent rickets type 3

Published:2018-04-03 Issue:5 Volume:128 Page:1913-1918
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Roizen Jeffrey D.^ORCID,Li Dong^ORCID,O’Lear Lauren,Javaid Muhammad K.,Shaw Nicholas J.,Ebeling Peter R.,Nguyen Hanh H.^ORCID,Rodda Christine P.,Thummel Kenneth E.,Thacher Tom D.,Hakonarson Hakon,Levine Michael A.^ORCID

Funder

NIH

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://www.jci.org/articles/view/98680/files/pdf

Reference23 articles.

1. Estimated equivalency of vitamin D production from natural sun exposure versus oral vitamin D supplementation across seasons at two US latitudes;Terushkin;J Am Acad Dermatol,2010

2. Inactivating Mutations in the 25-Hydroxyvitamin D31α-Hydroxylase Gene in Patients with Pseudovitamin D–Deficiency Rickets

3. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase

4. CYP2R1Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency

5. Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: A cause of vitamin D resistance

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