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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency
Jirair K. Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann Bergin, Didem Demirbas, Edward Yang, Ha Kyung Shin, George J. Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Gerard T. Berry
JIMD Rep. 2019 Jul; 48(1): 26–35. Published online 2019 Jun 17. doi: 10.1002/jmd2.12054
PMCID:
PMC6606986
AbstractArticlePDF–1.7M

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