Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

Authors: Magda Cannata Serio, Laurie A. Graham, Angel Ashikov, Lars Elmann Larsen, Kimiyo Raymond, Sharita Timal, Gwenn Le Meur, Margret Ryan, Elzbieta Czarnowska, Jos C. Jansen, Miao He, Can Ficicioglu, Pavel Pichurin, Linda Hasadsri, Berge Minassian, Alessandra Rugierri, Hannu Kalimo, W. Alfredo Ríos‐Ocampo, Christian Gilissen, Richard Rodenburg, Johan W. Jonker, Adriaan G. Holleboom, Eva Morava, Joris A. Veltman, Piotr Socha, Tom H. Stevens, Matias Simons, Dirk J. Lefeber

Published: 2020-03-07

DOI: 10.1002/hep.31218

Source: Full article


Abstract

Background and Aims