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pro vyhledávání: '"Sergi Beltran Agulló"'
Autor:
Begoña Merinero, Concepción Robles, Joana Fort, Aida Ormaizabal, Mariona Font-Llitjós, Joaquín Dopazo, Alfonso Oyarzabal, Patricia Alcaide, Pedro Ruiz-Sala, Anna López-Sala, Anna Pristoupilova, Magdalena Ugarte, Rosa Navarrete, Susanna Bodoy, Ma Antonia Vilaseca, Esperanza Castejón, Virginia Nunes, Angels García-Cazorla, Rafael Artuch, Sergi Beltran Agulló, Manuel Palacín, Pilar Rodríguez-Pombo, P. Sanz
Publikováno v:
Human Mutation. 35:470-477
Inactivating mutations in the BCKDK gene, which codes for the kinase responsible for the negative regulation of the branched-chain α-keto acid dehydrogenase complex (BCKD), have recently been associated with a form of autism in three families. In th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba8e4f53175bdd8484d7e30b53e247f2
https://doi.org/10.1002/humu.22513
https://doi.org/10.1002/humu.22513
