Publicaciones
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De Oyarzabal-Sanz AL, Martínez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M and Rodríguez-Pombo P.
A Novel Regulatory Defect in the Branched-Chain -Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease
HUMAN MUTATION . 34(2): 355-362. Nº de citas: 59