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

Molecular Genetics and Metabolism - Tập 119 - Trang 91-99 - 2016
Ashlee R. Stiles1,2, Mariella T. Simon3,4, Alexander Stover3, Shaya Eftekharian3, Negar Khanlou1, Hanlin L. Wang1, Shino Magaki1, Hane Lee1,2, Kate Partynski3, Nagmeh Dorrani5, Richard Chang3, Julian A. Martinez-Agosto2,5,6, Jose E. Abdenur3,7
1Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at University of California, Los Angeles, CA 90095, USA
2UCLA Clinical Genomics Center, Los Angeles, CA 90095, USA
3Division of Metabolic Disorders, CHOC Children's, Orange, CA 92868, USA
4Department of Developmental and Cellular Biology, School of Biological Sciences, University of California Irvine, Irvine, CA 92697, USA
5Department of Pediatrics, David Geffen School of Medicine at University of California Los Angeles, CA 90095, USA
6Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, CA 90095, USA
7Department of Pediatrics, University of California Irvine, Orange, CA 92868, USA

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