Publication
Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients
Angels García-Cazorla, Alfonso Oyarzabal, Joana Fort, Concepción Robles, Esperanza Castejón, Pedro Ruiz-Sala, Susanna Bodoy, Begoña Merinero, Anna Lopez-Sala, Joaquín Dopazo, Virginia Nunes, Magdalena Ugarte, Rafael Artuch, Manuel Palacín, Pilar Rodríguez-Pombo, Patricia Alcaide, Rosa Navarrete, Paloma Sanz, Mariona Font-Llitjós, Ma Antonia Vilaseca, Aida Ormaizabal, Anna Pristoupilova, Sergi Beltran Agulló
Human Mutation, March 2014, Wiley
DOI: 10.1002/humu.22513