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Missense mutations in N-acetylglucosamine-1-phosphotransferase α/β subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

✍ Scribed by Stephan Tiede; Nicole Muschol; Gert Reutter; Michael Cantz; Kurt Ullrich; Thomas Braulke

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 154 KB
Volume: 137A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30868

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