Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease)
โ Scribed by Mei-Chen Wu; Fuu-Jen Tsai; Cheng-Chun Le; Shuan-Pei Lin; Jer-Yuarn Wu
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 10 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
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
A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with
Three novel mutations, Q54P, W70X and T108I, were identified in the gene encoding glucose-6phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was