Mucolipidoses II and III variants with normal N-acetylglucosamine I-phosphotransferase activity toward alpha -methylmannoside are due to nonallalic mutations

Normal N-acetylglucosamine 1-phosphotransferase activity toward mono- and oligosaccharide acceptor substrates was detected in cultured skin fibroblasts from mucolipidoses II and III patients who were designated as variants (one of four mucolipidosis II and three out of six mucolipidosis III patients...

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Veröffentlicht in:	American journal of human genetics 1992-01, Vol.50 (1), p.137-144
Hauptverfasser:	Ben-Yoseph, Y, Mitchell, DA, Yager, R M, Wei, J T, Chen, T-H, Shih, L Y
Format:	Artikel
Sprache:	eng
Schlagworte:	alpha -methylmannoside mucolipidosis
Online-Zugang:	Volltext
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