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

By Perli Elena   Giordano Carla   Tuppen Helen A.L.   Montopoli Monica   Montanari Arianna   Orlandi Maurizia   Pisano Annalinda   Catanzaro Daniela   Caparrotta Laura   Musumeci Beatrice   Autore Camillo   Morea Veronica   Di Micco Patrizio   Campese Antonio F.   Leopizzi Martina   Gallo Pietro   Francisci Silvia   Frontali Laura   Taylor Robert W.   d'Amati Giulia  

Human Molecular Genetics, Vol. 21, Iss. 1, 2012-01 ,pp. : 85-100

Oxford University Press

Access to resources Recommend Favorite

Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background

By Hao Huiling  

Human Molecular Genetics, Vol. 8, Iss. 6, 1999-06 ,pp. : 1117-1124

Oxford University Press

Access to resources Recommend Favorite

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders

By Sternberg D.  

Human Molecular Genetics, Vol. 7, Iss. 1, 1998-01 ,pp. : 33-42

Oxford University Press

Access to resources Recommend Favorite

Mitochondrial tRNA Leu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation

By El Meziane A.  

Human Molecular Genetics, Vol. 7, Iss. 13, 1998-12 ,pp. : 2141-2147

Oxford University Press

Access to resources Recommend Favorite

Acquisition of the wobble modification in mitochondrial tRNA Leu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect

By Kirino Yohei   Yasukawa Takehiro   Marjavaara Sanna K.   Jacobs Howard T.   Holt Ian J.   Watanabe Kimitsuna   Suzuki Tsutomu  

Human Molecular Genetics, Vol. 15, Iss. 6, 2006-03 ,pp. : 897-904

Oxford University Press

Access to resources Recommend Favorite