Simon von Ameln, Geng Wang, Redouane Boulouiz, Mark A Rutherford, Geoffrey M Smith, et al.. A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss..
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.919-27.
⟨10.1016/j.ajhg.2012.09.002⟩.
⟨pasteur-00796959⟩