Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic 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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Ben-Yoseph, Y, Mitchell, D A, Yager, R M, Wei, J T, Chen, T H, Shih, L Y
פורמט: Artigo
שפה:Inglês
יצא לאור: 1992
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682514/
https://ncbi.nlm.nih.gov/pubmed/1309624
תגים: הוספת תג
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