Functional and Structural Analysis of Five Mutations Identified in Methylmalonic Aciduria cbIB Type

ATP cob(I)alamin adenosyltransferase (ATR, E.C.2.5.1.17) converts reduced cob(I)alamin to the adenosylcobalamin cofactor. Mutations in the MMAB gene encoding ATR are responsible for the cblB type methylmalonic aciduria. Here we report the functional analysis of five cblB mutations to determine the u...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Jorge-Finnigan, Ana, Aguado, Cristina, Sánchez-Alcudia, Rocio, Abia, David, Richard, Eva, Merinero, Begoña, Gámez, Alejandra, Banerjee, Ruma, Desviat, Lourdes R., Ugarte, Magdalena, Pérez, Belen
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2010
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2932867/
https://ncbi.nlm.nih.gov/pubmed/20556797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21307
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