未登录 Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease Cannata Serio, Magda; Graham, Laurie A.; Ashikov, Angel; Larsen, Lars Elmann; Raymond, Kimiyo; Timal, Sharita; Le Meur, Gwenn; Ryan, Margret; Czarnowska, Elzbieta; Jansen, Jos C.; He, Miao; Ficicioglu, Can; Pichurin, Pavel; Hasadsri, Linda; Minassian, Berge; Rugierri, Alessandra; Kalimo, Hannu; Rios-Ocampo, W. Alfredo; Gilissen, Christian; Rodenburg, Richard; Jonker, Johan W.; Holleboom, Adriaan G.; Morava, Eva; Veltman, Joris A.; Socha, Piotr; Stevens, Tom H.; Simons, Matias; Lefeber, Dirk J. 分享 收藏
A new direction for Traffic Marks, Michael S.; Parton, Robert G.; Schroer, Trina A.; Tooze, Sharon A.; Brodsky, Frances M.; Marsh, Mark; Schmid, Sandra L.; Griffiths, Gillian M.; Stevens, Tom H.; van Meer, Gerrit 分享 收藏
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ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation Jansen, Eric J. R.; Timal, Sharita; Ryan, Margret; Ashikov, Angel; van Scherpenzeel, Monique; Graham, Laurie A.; Mandel, Hanna; Hoischen, Alexander; Iancu, Theodore C.; Raymond, Kimiyo; Steenbergen, Gerry; Gilissen, Christian; Huijben, Karin; van Bakel, Nick H. M.; Maeda, Yusuke; Rodenburg, Richard J.; Adamowicz, Maciej; Crushell, Ellen; Koenen, Hans; Adams, Darius; Vodopiutz, Julia; Greber-Platzer, Susanne; Mueller, Thomas; Dueckers, Gregor; Morava, Eva; Sykut-Cegielska, Jolanta; Martens, Gerard J. M.; Wevers, Ron A.; Niehues, Tim; Huynen, Martijn A.; Veltman, Joris A.; Stevens, Tom H.; Lefeber, Dirk J. 分享 收藏
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