Epimutation of MMACHC compound to a genetic mutation in cblC cases

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 mutations...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Zhang, Xiaoman, Chen, Qiong, Song, Yinsen, Guo, Pengbo, Wang, Yanhong, Luo, Shuying, Zhang, Yaodong, Zhou, Chongchen, Li, Dongxiao, Chen, Yongxing, Wei, Haiyan
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8222841/
https://ncbi.nlm.nih.gov/pubmed/33982424
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1625
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