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