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Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Novarino, Gaia; El-Fishawy, Paul; Kayserili, Hulya; Meguid, Nagwa A; Scott, Eric M; Schroth, Jana; Silhavy, Jennifer L; Kara, Majdi; Khalil, Rehab O; Ben-Omran, Tawfeg; Ercan-Sencicek, A Gulhan; Hashish, Adel F; Sanders, Stephan J; Gupta, Abha R; Hashem, Hebatalla S; Matern, Dietrich; Gabriel, Stacey; Sweetman, Larry; Rahimi, Yasmeen; Harris, Robert A; State, Matthew W; Gleeson, Joseph G.
Afiliación
  • Novarino G; Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA. gnovarino@ucsd.edu
Science ; 338(6105): 394-7, 2012 Oct 19.
Article en En | MEDLINE | ID: mdl-22956686

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastorno Autístico / 3-Metil-2-Oxobutanoato Deshidrogenasa (Lipoamida) / Epilepsia Idioma: En Revista: Science Año: 2012 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastorno Autístico / 3-Metil-2-Oxobutanoato Deshidrogenasa (Lipoamida) / Epilepsia Idioma: En Revista: Science Año: 2012 Tipo del documento: Article