Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion
Titel:
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion
Auteur:
Varma, Hemant Faust, Phyllis L. Iglesias, Alejandro D. Lagana, Stephen M. Wou, Karen Hirano, Michio DiMauro, Salvatore Mansukani, Mahesh M. Hoff, Kirsten E. Nagy, Peter L. Copeland, William C. Naini, Ali B.