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

CONTEXT: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessively inherited disorder due to loss-of-function mutations in the CYP27B1 gene. CYP27B1 encodes an enzyme of 25-hydroxyvitamin D-1α-hydroxylase for converting inactive 25-OHD to biologically active 1,25-(OH)(2)D. OBJECTI...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Zou, Minjing, Guven, Ayla, BinEssa, Huda A., Al-Rijjal, Roua A., Meyer, Brian F., Alzahrani, Ali S., Shi, Yufei
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7729158/
https://ncbi.nlm.nih.gov/pubmed/33329754
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.607517
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