Isolation and Nucleotide Sequence of Canine Glucose-6-phosphatase mRNA: Identification of Mutation in Puppies with Glycogen Storage Disease Type Ia
β Scribed by Priya S. Kishnani; Yong Bao; Jer-Yuarn Wu; Amy E. Brix; Ju-Li Lin; Yuan-Tsong Chen
- Book ID
- 112238217
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 924 KB
- Volume
- 61
- Category
- Article
- ISSN
- 1077-3150
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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