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

Lookup NU author(s): Dr Helen Tuppen, Dr Arianna Montanari, Martina Leopizzi, Professor Robert Taylor


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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

Publication type: Article

Journal: Human Molecular Genetics

Year: 2012

Volume: 21

Issue: 1

Pages: 85-100

Print publication date: 26/09/2011

ISSN (print): 0964-6906

ISSN (electronic): 1460-2083

Publisher: Oxford University Press


DOI: 10.1093/hmg/ddr440


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