The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy

✍ Scribed by Stephan Hinderlich; Ilan Salama; Iris Eisenberg; Tamara Potikha; Lars R. Mantey; Kevin J. Yarema; Rüdiger Horstkorte; Zohar Argov; Menachem Sadeh; Werner Reutter; Stella Mitrani-Rosenbaum

• Book ID: 116464423
• Publisher: Elsevier Science
• Year: 2004
• Tongue: English
• Weight: 133 KB
• Volume: 566
• Category: Article
• ISSN: 0014-5793
• DOI: 10.1016/j.febslet.2004.04.013