A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

Autor: Bedoyan, Jirair K., Hecht, Leah, Shulin Zhang, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Edward Yang, Ha Kyung Shin, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.
Zdroj: Journal of Inherited Metabolic Disease Reports; Jul2019, Vol. 48 Issue 1, p26-35, 10p
Databáze: Complementary Index
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