Gene Review:
MMACHC - methylmalonic aciduria (cobalamin...
Homo sapiens
Synonyms:
DKFZP564I122, Methylmalonic aciduria and homocystinuria type C protein, cblC
- Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Lerner-Ellis, J.P., Tirone, J.C., Pawelek, P.D., Doré, C., Atkinson, J.L., Watkins, D., Morel, C.F., Fujiwara, T.M., Moras, E., Hosack, A.R., Dunbar, G.V., Antonicka, H., Forgetta, V., Dobson, C.M., Leclerc, D., Gravel, R.A., Shoubridge, E.A., Coulton, J.W., Lepage, P., Rommens, J.M., Morgan, K., Rosenblatt, D.S. Nat. Genet. (2006)