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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 journal › Article › peer-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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