Epimutation of MMACHC compound to a genetic mutation in cblC cases

Epimutation of MMACHC compound to a genetic mutation in cblC cases

Abstract Background Methylmalonic aciduria (MMA) combined with homocystinuria, cobalamin(cbl)C deficiency type (OMIM 277400), is the most common autosomal recessive inherited disorder of intracellular cobalamin metabolism caused by mutations in the MMACHC gene (OMIM 609831), of which more than 100 m...

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Bibliographic Details
Main Authors: Xiaoman Zhang, Qiong Chen, Yinsen Song, Pengbo Guo, Yanhong Wang, Shuying Luo, Yaodong Zhang, Chongchen Zhou, Dongxiao Li, Yongxing Chen, Haiyan Wei
Format: Article
Language:English
Published: Wiley 2021-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cblC
epimutation
hypermethylated
MMACHC
Online Access:https://doi.org/10.1002/mgg3.1625

Internet

https://doi.org/10.1002/mgg3.1625

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