Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
Tiede S; Storch S; Lübke T; Henrissat B; Bargal R; Raas-Rothschild A; Braulke T; Nature Medicine, 2005, vol. 11, issue 10, p 1109, ISSN 10788956. ISBN 10788956.

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