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Genetic heterogeneity of glycogen storage disease type 1b: Microsomal glucose-6-phosphatase system in two patients with different clinical symptoms

✍ Scribed by K. Tada; K. Narisawa; Y. Igarashi; T. Kuzuya


Publisher
Springer
Year
1983
Tongue
English
Weight
227 KB
Volume
6
Category
Article
ISSN
0141-8955

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Identification of a novel mutation (867d
✍ Jan Peter Rake; Annelies M. ten Berge; Gepke Visser; Edwin Verlind; Klary E. Nie πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 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