Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Jama
Taylor, Robert W RW; Pyle, Angela A; Griffin, Helen H; Blakely, Emma L EL; Duff, Jennifer J; He, Langping L; Smertenko, Tania T; Alston, Charlotte L CL; Neeve, Vivienne C VC; Best, Andrew A; Yarham, John W JW; Kirschner, Janbernd J; Schara, Ulrike U; Talim, Beril B; Topaloglu, Haluk H; Baric, Ivo I; Holinski-Feder, Elke E; Abicht, Angela A; Czermin, Birgit B; Kleinle, Stephanie S; Morris, Andrew A M AA; Vassallo, Grace G; Gorman, Grainne S GS; Ramesh, Venkateswaran V; Turnbull, Douglass M DM; Santibanez-Koref, Mauro M; McFarland, Robert R; Horvath, Rita R; Chinnery, Patrick F PF
Publication Date: 2014-07-02
Variant appearance in text: HERC2: 6448C>G; Leu2150Val