Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients (Q28306320)
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English | Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients |
scientific article |
Statements
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients (English)
Angels García-Cazorla
Concepción Robles
Esperanza Castejón
Pedro Ruiz-Sala
Begoña Merinero
Anna Lopez-Sala
Virginia Nunes
Magdalena Ugarte
Rafael Artuch
Manuel Palacín
Pilar Rodríguez-Pombo
Rosa Navarrete
Paloma Sanz
Mariona Font-Llitjós
Ma Antonia Vilaseca
Aida Ormaizabal
Sergi Beltran Agulló
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