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Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors

✍ Scribed by Beaty, R M; Jackson, M; Peterson, D; Bird, A; Brown, T; Benjamin, D K; Juopperi, T; Kishnani, P; Boney, A; Chen, Y T


Book ID
110039072
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
472 KB
Volume
9
Category
Article
ISSN
0969-7128

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Identification of a novel mutation (867d
✍ Jan Peter Rake; Annelies M. ten Berge; Gepke Visser; Edwin Verlind; Klary E. Nie 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterog