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
β¦ LIBER β¦
Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly
β Scribed by Laura Forsyth; Robert Hume; Allan Howatson; Anthony Busuttil; Ann Burchell
- Book ID
- 105796346
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 352 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0946-2716
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