Publication:

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T > C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy (2012)

Author(s): Perli E, Giordano C, Tuppen HAL, Montopoli M, Montanari A, Orlandi M, Pisano A, Catanzaro D, Caparrotta L, Musumeci B, Autore C, Morea V, Di Micco P, Campese AF, Leopizzi M, Gallo P, Francisci S, Frontali L, Taylor RW, d'Amati G

      • Date: 26-09-2011
      • Journal: Human Molecular Genetics
      • Volume: 21
      • Issue: 1
      • Pages: 85-100
      • Publisher: Oxford University Press
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: HEREDITARY-OPTIC-NEUROPATHY DNA MUTATION MTDNA DISEASE CELLS EXPRESSION VARIANTS DEAFNESS

      Staff

      Professor Robert Taylor
      Professor of Mitochondrial Pathology