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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

✍ Scribed by Oyarzabal, Alfonso; Martínez-Pardo, Mercedes; Merinero, Begoña; Navarrete, Rosa; Desviat, Lourdes R; Ugarte, Magdalena; Rodríguez-Pombo, Pilar

Book ID
118759332
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
395 KB
Volume
34
Category
Article
ISSN
1059-7794

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A nonsense mutation (R242X) in the branc
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