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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Zhang, Xiaoman, Chen, Qiong, Song, Yinsen, Guo, Pengbo, Wang, Yanhong, Luo, Shuying, Zhang, Yaodong, Zhou, Chongchen, Li, Dongxiao, Chen, Yongxing, Wei, Haiyan
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2021
Pynciau:
Original Articles
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg