Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

Ashlee R. Stiles, Mariella T. Simon, Alexander Stover, Shaya Eftekharian, Negar Khanlou, Hanlin L. Wang, Shino Magaki, Hane Lee, Kate Partynski, Nagmeh Dorrani, Richard Chang, Julian A. Martinez-Agosto, Jose E. Abdenur

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)91-99
Number of pages9
JournalMolecular Genetics and Metabolism
Volume119
Issue number1-2
DOIs
StatePublished - Sep 1 2016

ASJC Scopus Subject Areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Keywords

  • Liver failure
  • Mitochondrial disease
  • Newborn screening
  • TFAM mutation
  • mtDNA depletion syndrome

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