SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

✍ Scribed by Schlotawa, Lars; Ennemann, Eva Charlotte; Radhakrishnan, Karthikeyan; Schmidt, Bernhard; Chakrapani, Anupam; Christen, Hans-Jürgen; Moser, Hugo; Steinmann, Beat; Dierks, Thomas; Gärtner, Jutta

• Book ID: 109849328
• Publisher: Nature Publishing Group
• Year: 2011
• Tongue: English
• Weight: 836 KB
• Volume: 19
• Category: Article
• ISSN: 1018-4813
• DOI: 10.1038/ejhg.2010.219