Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error

Journal article

Open access

Peer reviewed

Minjing Zou, Ayla Guven, Huda A. BinEssa, Roua A. Al-Rijjal, Brian F. Meyer, Ali S. Alzahrani and Yufei Shi

Frontiers in genetics, Vol.11, pp.607517-607517

27/11/2020

PMID: 33329754

Abstract

1α-hydroxylase

CYP27B1 mutation

Genetics

rickets

RNA splicing

vitamin D

url

https://doi.org/10.3389/fgene.2020.607517View

Published (Version of record) Open

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Title: Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error
Creators - without role: Minjing Zou - King Faisal Specialist Hospital & Research Centre
Ayla Guven - Zeynep Kamil Hospital
Huda A. BinEssa - King Faisal Specialist Hospital & Research Centre
Roua A. Al-Rijjal - King Faisal Specialist Hospital & Research Centre
Brian F. Meyer - Zeynep Kamil Hospital
Ali S. Alzahrani - King Faisal Specialist Hospital & Research Centre
Yufei Shi - King Faisal Specialist Hospital & Research Centre
Publication Details: Frontiers in genetics, Vol.11, pp.607517-607517
Publisher: Frontiers Media S.A
Identifiers: 9918766708331
Academic Unit: King Faisal University; King Abdulaziz City for Science & Technology
Language: English
Resource Type: Journal article