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Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

Detalles Bibliográficos
Autores principales:	Sloan, Jennifer L., Johnston, Jennifer J., Manoli, Irini, Chandler, Randy J., Krause, Caitlin, Carrillo-Carrasco, Nuria, Chandrasekaran, Suma D., Sysol, Justin R., O’Brien, Kevin, Hauser, Natalie S., Sapp, Julie C., Dorward, Heidi M., Huizing, Marjan, Barshop, Bruce A., Berry, Susan A., James, Philip M., Champaigne, Neena L., de Lonlay, Pascale, Valayannopoulos, Vassilli, Geschwind, Michael D., Gavrilov, Dimitar K., Nyhan, William L., Biesecker, Leslie G., Venditti, Charles P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2011
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163731/ https://www.ncbi.nlm.nih.gov/pubmed/21841779 http://dx.doi.org/10.1038/ng.908

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