Communicated by Jan Kraus
A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease
Article first published online: 12 DEC 2012
© 2012 WILEY PERIODICALS, INC.
Volume 34, Issue 2, pages 355–362, February 2013
How to Cite
Oyarzabal, A., Martínez-Pardo, M., Merinero, B., Navarrete, R., Desviat, L. R., Ugarte, M. and Rodríguez-Pombo, P. (2013), A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease. Hum. Mutat., 34: 355–362. doi: 10.1002/humu.22242
Contract grant sponsors: Fundación Ramón Areces (XVI Concurso Nacional Investigación Científica y Técnica); Spanish Ministerio de Sanidad y Consumo, (PI080131) and Ciencia y Tecnología (SAF2010–17272).
- Issue published online: 29 JAN 2013
- Article first published online: 12 DEC 2012
- Accepted manuscript online: 19 OCT 2012 01:42PM EST
- Manuscript Accepted: 4 OCT 2012
- Manuscript Received: 27 JUL 2012
- Fundación Ramón Areces (XVI Concurso Nacional Investigación Científica y Técnica); Spanish Ministerio de Sanidad y Consumo. Grant Number: PI080131
- Ciencia y Tecnología. Grant Number: SAF2010–17272
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