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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Xiaoman, Chen, Qiong, Song, Yinsen, Guo, Pengbo, Wang, Yanhong, Luo, Shuying, Zhang, Yaodong, Zhou, Chongchen, Li, Dongxiao, Chen, Yongxing, Wei, Haiyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222841/
https://www.ncbi.nlm.nih.gov/pubmed/33982424
http://dx.doi.org/10.1002/mgg3.1625

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222841/
https://www.ncbi.nlm.nih.gov/pubmed/33982424
http://dx.doi.org/10.1002/mgg3.1625

Ejemplares similares