Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions. Here we describe a novel G1
Identification of a 5′ splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa
✍ Scribed by S. Uotani; H. Yamasaki; H. Takino; E. Kawasaki; H. Matsuo; S. Yamasaki; Y. Jinno; N. Niikawa; M. Ito; H. Sugie; Y. Yamaguchi; K. Eguchi
- Book ID
- 110226625
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 35 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0141-8955
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Glycogen storage disease type III (GSD-III) is an autosomal recessive disease resulting from deficient glycogen debranching enzyme (ODE) activity. A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4
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