Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Mariska Davids, Minal Menezes, Yiran Guo, Scott McLean, Håkon Håkonarson, Felicity Collins, Lisa Worgan, Charles J. Billington, Irina Marić, Rebecca O. Littlejohn, Tito Onyekweli, Members of the UDN, David R. Adams, Cynthia J. Tifft, William A. Gahl, Lynne A. Wolfe, John Christodoulou, May Christine V. Malicdan