Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients

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Description scientific article
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author: Joana Fort  Joaquín Dopazo  Patricia Alcaide  Anna Přistoupilová  Alfonso Oyarzabal  Susanna Bodoy 

Publication date March 5, 2014
Language English
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