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Development of Transgenic Mice Containing an Introduced Stop Codon on the Human Methylmalonyl-CoA Mutase Locus

The mutation R403stop was found in an individual with mut(0) methylmalonic aciduria (MMA) which resulted from a single base change of C→T in exon 6 of the methylmalonyl-CoA mutase gene (producing a TGA stop codon). In order to accurately model the human MMA disorder we introduced this mutation onto...

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Detalles Bibliográficos
Autores principales: Buck, Nicole E., Dashnow, Harriet, Pitt, James J., Wood, Leonie R., Peters, Heidi L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443245/
https://www.ncbi.nlm.nih.gov/pubmed/23024777
http://dx.doi.org/10.1371/journal.pone.0044974