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Exon redefinition by a point mutation within exon 5 of the glucose-6- phosphatase gene is the major cause of glycogen storage disease type Ia in Japan

โœ Scribed by Kajihara, S. (author);Matsuhashi, S. (author);Yamamoto, K. (author);Kido, K. (author);Tsuji, K. (author);Tanae, A. (author);Fujiyama, S. (author);Itoh, T. (author);Tanigawa, K. (author);Uchida, M. (author);Setoguchi, Y. (author);Motomura, M. (author);Mizuta, T. (author);Sakai, T. (author)


Book ID
123141806
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
146 KB
Volume
57
Category
Article
ISSN
0270-9139

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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‘ 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