Department of Anesthesiology
Author Title Type [ Year(Desc)]
Filters: Keyword is Mutation, Missense  [Clear All Filters]
2004
Accardi A, Miller C.  2004.  Secondary active transport mediated by a prokaryotic homologue of ClC Cl- channels.. Nature. 427(6977):803-7.
2007
Nguyen C, Nishi A, Kansy JW, Fernandez J, Hayashi K, Gillardon F, Hemmings HC, Nairn AC, Bibb JA.  2007.  Regulation of protein phosphatase inhibitor-1 by cyclin-dependent kinase 5.. J Biol Chem. 282(22):16511-20.
Bitto E, Bingman CA, Wesenberg GE, McCoy JG, Phillips GN.  2007.  Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.. Proc Natl Acad Sci U S A. 104(2):456-61.
2011
Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, de Bernabé DBeltrán-V, Gündeşli H, Willer T, Satz JS, Crawford RW, Burden SJ et al..  2011.  A dystroglycan mutation associated with limb-girdle muscular dystrophy.. N Engl J Med. 364(10):939-46.