Whole Exome Sequencing (WES) Identifies a Mutation in ALPK1 Responsible for a Novel, Autosomal Dominant Disorder of Vision Loss, Splenomegaly, and Pancytopenia

Williams 2013 ARVO final

This abstract was presented today at the Association for Research in Vision and Opthalmology (ARVO) meetings in Seattle, Washington by Lloyd B. Williams, Chad D. Huff, Denise Morgan, Rosann Robinson, Margaux Morrison, Krista Kinard, George Rodgers, Kathleen B. Digre, Kathleen and Margaret DeAngelis. Continue reading “Whole Exome Sequencing (WES) Identifies a Mutation in ALPK1 Responsible for a Novel, Autosomal Dominant Disorder of Vision Loss, Splenomegaly, and Pancytopenia”