1. 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 (April 2012)
DOI: /j.ajhg
Copyright © 2012 The American Society of Human Genetics Terms and Conditions

2. 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  , DOI: ( /j.ajhg )
Copyright © 2012 The American Society of Human Genetics Terms and Conditions

3. 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 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  , DOI: ( /j.ajhg )
Copyright © 2012 The American Society of Human Genetics Terms and Conditions