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Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I

G41 is an interfacial residue located within the α-helix 34–42 of alanine:glyoxylate aminotransferase (AGT). Its mutations on the major (AGT-Ma) or the minor (AGT-Mi) allele give rise to the variants G41R-Ma, G41R-Mi, and G41V-Ma causing hyperoxaluria type 1. Impairment of dimerization in these vari...

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Autors principals: Cellini, Barbara, Montioli, Riccardo, Paiardini, Alessandro, Lorenzetto, Antonio, Maset, Fabio, Bellini, Tiziana, Oppici, Elisa, Voltattorni, Carla Borri
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2840350/
https://ncbi.nlm.nih.gov/pubmed/20133649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0908565107
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