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Items: 3

Select item 27788441.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016

PMCID:: PMC2778844

Abstract Article PDF–1.2M

Select item 17358972.

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

P Reynier, P Amati-Bonneau, C Verny, A Olichon, G Simard, A Guichet, C Bonnemains, F Malecaze, M Malinge, J Pelletier, P Calvas, H Dollfus, P Belenguer, Y Malthiery, G Lenaers, D Bonneau

J Med Genet. 2004 Sep; 41(9): e110. doi: 10.1136/jmg.2003.016576