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Items: 3

1.
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
Clara D. van Karnebeek, William S. Sly, Colin J. Ross, Ramona Salvarinova, Joy Yaplito-Lee, Saikat Santra, Casper Shyr, Gabriella A. Horvath, Patrice Eydoux, Anna M. Lehman, Virginie Bernard, Theresa Newlove, Henry Ukpeh, Anupam Chakrapani, Mary Anne Preece, Sarah Ball, James Pitt, Hilary D. Vallance, Marion Coulter-Mackie, Hien Nguyen, Lin-Hua Zhang, Amit P. Bhavsar, Graham Sinclair, Abdul Waheed, Wyeth W. Wasserman, Sylvia Stockler-Ipsiroglu
Am J Hum Genet. 2014 Mar 6; 94(3): 453–461. doi: 10.1016/j.ajhg.2014.01.006
PMCID:
PMC3951944
AbstractArticlePDF–1.1M
2.
Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression
Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien
PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862
PMCID:
PMC2943476
AbstractArticlePDF–461K
3.
Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16.
Y Nagao, J S Platero, A Waheed, W S Sly
Proc Natl Acad Sci U S A. 1993 Aug 15; 90(16): 7623–7627. doi: 10.1073/pnas.90.16.7623
PMCID:
PMC47194
SummaryPage BrowsePDF–1.3M

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