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...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha: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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