MPV17 -related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

Ayman W. El-Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J. Gambello, Pankaj Prasun, Saleem Raza, Hernando J. Lyons, Manal Afqi, Mohammed A. M. Saleh, Eissa A. Faqeih, Hamad I. Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah S. Barbouth, Kei Murayama, Amit A. Shah, Henry C. Lin, Lee-Jun C. Wong
  • Human Mutation, January 2018, Wiley
  • DOI: 10.1002/humu.23387
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