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Items: 2

Select item 65582671.

Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency

Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L. Alston, Vivienne C. Neeve, Andrew Best, John W. Yarham, Janbernd Kirschner, Ulrike Schara, Beril Talim, Haluk Topaloglu, Ivo Baric, Elke Holinski-Feder, Angela Abicht, Birgit Czermin, Stephanie Kleinle, Andrew A.M. Morris, Grace Vassallo, Grainne S. Gorman, Venkateswaran Ramesh, Douglass M. Turnbull, Mauro Santibanez-Koref, Robert McFarland, Rita Horvath, Patrick F. Chinnery

JAMA. Author manuscript; available in PMC 2019 Jun 11.

Published in final edited form as: JAMA. 2014 Jul 2; 312(1): 68–77. doi: 10.1001/jama.2014.7184

PMCID:: PMC6558267

Abstract Article PDF–703K

Select item 31467182.

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Alexandra Götz, Henna Tyynismaa, Liliya Euro, Pekka Ellonen, Tuulia Hyötyläinen, Tiina Ojala, Riikka H. Hämäläinen, Johanna Tommiska, Taneli Raivio, Matej Oresic, Riitta Karikoski, Outi Tammela, Kalle O.J. Simola, Anders Paetau, Tiina Tyni, Anu Suomalainen

Am J Hum Genet. 2011 May 13; 88(5): 635–642. doi: 10.1016/j.ajhg.2011.04.006