PMC Links for Gene (Select 309391) - PMC

Select item 17358521.

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

C Oquendo, H Antonicka, E Shoubridge, W Reardon, G Brown

J Med Genet. 2004 Jul; 41(7): 540–544. doi: 10.1136/jmg.2003.017426

PMCID:: PMC1735852

Select item 3786142.

Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy

Hana Antonicka, Andre Mattman, Christopher G. Carlson, D. Moira Glerum, Kristen C. Hoffbuhr, Scot C. Leary, Nancy G. Kennaway, Eric A. Shoubridge

Am J Hum Genet. 2003 Jan; 72(1): 101–114. Published online 2002 Dec 9. doi: 10.1086/345489

PMCID:: PMC378614

Abstract Article PDF–589K

Select item 3833083.

Identification of Candidate Disease Genes by EST Alignments, Synteny, and Expression and Verification of Ensembl Genes on Rat Chromosome 1q43-54

Ursula Vitt, Darryl Gietzen, Kristian Stevens, Jim Wingrove, Shanya Becha, Sean Bulloch, John Burrill, Narinder Chawla, Jennifer Chien, Matthew Crawford, Craig Ison, Liam Kearney, Mary Kwong, Joe Park, Jennifer Policky, Mark Weiler, Renee White, Yuming Xu, Sue Daniels, Howard Jacob, Michael I. Jensen-Seaman, Jozef Lazar, Laura Stuve, Jeanette Schmidt

Genome Res. 2004 Apr; 14(4): 640–650. doi: 10.1101/gr.1932304

PMCID:: PMC383308

Abstract Article PDF–285K

Select item 27788444.

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 1392415.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 31780596.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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