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A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)

โœ Scribed by Mei-Chen Wu; Fuu-jen Tsai; Cheng-Chun Lee; Chang-Hai Tsai; Jer-Yuarn Wu


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
12 KB
Volume
16
Category
Article
ISSN
1059-7794

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Identification of a novel mutation (867d
โœ Jan Peter Rake; Annelies M. ten Berge; Gepke Visser; Edwin Verlind; Klary E. Nie ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 10 KB ๐Ÿ‘ 1 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