Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population

Missense mutation in the N-acetylglucosa

Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG

✍ Stephan Tiede; Michael Cantz; Jürgen Spranger; Thomas Braulke 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 460 KB 👁 1 views

## Mucolipidosis type II (ML II; I-cell disease) and mucolipidosis III (ML III; pseudo Hurler polydystrophy) are autosomal recessively inherited disorders caused by a defective Nacetylglucosamine 1-phosphotransferase (phosphotransferase). The formation of mannose 6phosphate markers in soluble lysos