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A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b

โœ Scribed by Ching-Wan Lam; Kwok-Yin Chan; Sui-Fan Tong; Bik-Yan Chan; Yuk-Tat Chan; Yan-Wo Chan

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

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โœฆ Synopsis

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with

๐Ÿ“œ SIMILAR VOLUMES

Identification of a novel mutation (867d
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes
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