Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

por Deeb, Kristin K., Bedoyan, Jirair K., Wang, Raymond, Sremba, Leighann, Schroeder, Molly C., Grahame, George J., Boyer, Monica, McCandless, Shawn E., Kerr, Douglas S., Zhang, Shulin
Publicado 2014

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

por Bedoyan, Jirair K., Hecht, Leah, Zhang, Shulin, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Yang, Edward, Shin, Ha Kyung, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.
Publicado 2019