Bobby G. Ng, Karl Hackmann, Melanie A. Jones, Alexey M

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Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome Bobby G. Ng, Karl Hackmann, Melanie A. Jones, Alexey M. Eroshkin, Ping He, Roy Wiliams, Shruti Bhide, Vincent Cantagrel, Joseph G. Gleeson, Amy S. Paller, Rhonda E. Schnur, Sigrid Tinschert, Janice Zunich, Madhuri R. Hegde, Hudson H. Freeze The American Journal of Human Genetics Volume 90, Issue 4, Pages 685-688 (April 2012) DOI: 10.1016/j.ajhg.2012.02.010 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Organization of Human PIGL and Associated Mutations Schematic representation showing both genomic and protein organization of human PIGL with corresponding mutations as well as functional protein domains including a 20aa transmembrane domain (TMD) and the core de-N-acetylase domain. The American Journal of Human Genetics 2012 90, 685-688DOI: (10.1016/j.ajhg.2012.02.010) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 Cell Surface Expression of Total GPI Anchor and CD59 Fluorescence-activated cell sorting analysis for two separate GPI anchor markers, CD59 and FLAER, were used on a primary fibroblast line from individual 3988 and an EBV transformed lymphoblast line from individual 33300 to evaluate GPI anchor levels. In both instances, two normal controls were used. Shown is a representation of the two. Dotted lines indicate isotype controls. The American Journal of Human Genetics 2012 90, 685-688DOI: (10.1016/j.ajhg.2012.02.010) Copyright © 2012 The American Society of Human Genetics Terms and Conditions