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

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

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Biochemistry, Genetics and Molecular Biology