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Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

✍ Scribed by Maria Francisca Coutinho; Liliana da Silva Santos; Katta Mohan Girisha; Kapaettu Satyamoorthy; Lúcia Lacerda; Maria João Prata; Sandra Alves

Book ID: 111995133
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 206 KB
Volume: 158A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35295

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## Communicated by Mark H. Paalman Mucolipidosis types II and III are autosomal recessive inherited diseases caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1 phosphotransferase (GlcNAc-phosphotransferase), which adds phosphate to function as a recognition marker for the uptake