Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase

Stephan Tiede(University of Lübeck), Thomas Braulke(Universität Hamburg), Torben Lübke(Institute of Ismaili Studies), Annick Raas‐Rothschild(Hebrew University of Jerusalem), Bernard Henrissat(Centre National de la Recherche Scientifique), Stephan Storch(Universität Hamburg), Ruth Bargal(Hadassah Medical Center)
Nature Medicine
October 1, 2005
Cited by 211


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