Severe clinical course in a patient with homozygous mtDNA polymerase gamma mutation (A467T) and heterozygous thymidine phosphorylase mutation (A465T). A possible digenic effect? (2007)

Author(s): Hahn DH, Schibli SS, Schaller AS, Kern IK, Haenggeli CHA, Bottani AB, Schaeppi MS, Giroud-Rivier AGR, Belli DB, Chinnery PFC, Gallati SG, Nuoffer JMN

      • Date: 01-08-2007
      • Journal: Journal of Inherited Metabolic Disease
      • Volume: 30
      • Issue: Supplement 1
      • Pages: 79-79
      • Publisher: Springer
      • Publication type: Article
      • Bibliographic status: Published
      • ISSN (electronic): 1573-2665