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...

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Detalhes bibliográficos
Main Authors: Ben-Yoseph, Y, Mitchell, D A, Yager, R M, Wei, J T, Chen, T H, Shih, L Y
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682514/
https://ncbi.nlm.nih.gov/pubmed/1309624
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