Homozygous mutation 341delG/101X of the glucose-6-phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient
β Scribed by Tsang-Ming Ko; Zhi-Cheng Liang; Yu-Wan Lin; Wuh-Liang Hwu
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 10 KB
- Volume
- 13
- Category
- Article
- ISSN
- 1059-7794
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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
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