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TITLE: Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
AUTHORS: Maria A Rujano; Magda Cannata Serio; Ganna Panasyuk; Romain Anne n e P; Janine Reunert; Daisy Rymen; Virginie Hauser; Julien H Park; Peter Freisinger; Erika Souche; Maria Clara Guida; Esther M Maier; Yoshinao Wada; Stefanie Jager; Nevan J Krogan; Oliver Kretz; Susana Nobre; Paula Garcia; Dulce Quelhas; Thomas D Bird; Wendy H Raskind; Michael Schwake; Sandrine Duvet; Francois Foulquier; Gert Matthijs; Thorsten Marquardt; Matias Simons; ...More
PUBLISHED: 2017, SOURCE: JOURNAL OF EXPERIMENTAL MEDICINE, VOLUME: 214, ISSUE: 12
INDEXED IN: Scopus WOS