Ngā hua rapu - Cannata Serio, Magda

Mutations in ATP6AP2 cause autophagic liver disease in humans mā Cannata Serio, Magda, Rujano, Maria A., Simons, Matias

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Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects mā Rujano, Maria A., Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H., Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M., Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J., Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D., Raskind, Wendy H., Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias

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

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