Article
Epimutation of MMACHC compound to a genetic mutation in cblC cases.
Molecular genetics & genomic medicine - 1 Jun 2021
Zhang Xiaoman, Chen Qiong, Song Yinsen, Guo Pengbo, Wang Yanhong, Luo Shuying, Zhang Yaodong, Zhou Chongchen, Li Dongxiao, Chen Yongxing, Wei Haiyan
Abstract excerpt
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 have been identified to date. In this study, we only identified a coding mutation in one allele at the MMACHC gene...
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