A Novel Regulatory Defect in the Branched-Chain α-Keto Acid...

Human Mutation 2013 / 02 Vol. 34; Iss. 2

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM 1 K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

Oyarzabal, Alfonso, Martínez-Pardo, Mercedes, Merinero, Begoña, Navarrete, Rosa, Desviat, Lourdes R, Ugarte, Magdalena, Rodríguez-Pombo, Pilar
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Volume:
34
Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.22242
Date:
February, 2013
File:
PDF, 395 KB
english, 2013
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