Publication
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder
Miles D. Thompson, Alexej A. Knaus, Bruce A. Barshop, Almuth Caliebe, Hiltrud Muhle, Thi Tuyet Mai Nguyen, Nissan V. Baratang, Taroh Kinoshita, Maire E. Percy, Philippe M. Campeau, Yoshiko Murakami, David E. Cole, Peter N. Krawitz, C. Charlton Mabry
European Journal of Medical Genetics, December 2019, Elsevier
DOI: 10.1016/j.ejmg.2019.103822