Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients
García-Cazorla, Angels, Oyarzabal, Alfonso, Fort, Joana, Robles, Concepción, Castejón, Esperanza, Ruiz-Sala, Pedro, Bodoy, Susanna, Merinero, Begoña, Lopez-Sala, Anna, Dopazo, Joaquín, Nunes, VirginiaVolume:
35
Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.22513
Date:
April, 2014
File:
PDF, 928 KB
english, 2014