Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid betaglucosidase gene of a Taiwan Chinese patient with type II Gaucher disease
Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes
✍ Scribed by Zakarya El-Morsy; Mohamed T. Khashaba; Othman El-Sayed Soliman; Sohier Yahia; Dina Abd El-Hady
- Book ID
- 107659986
- Publisher
- SP Children’s Hospital, Zhejiang University School of Medicine
- Year
- 2011
- Tongue
- English
- Weight
- 188 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1708-8569
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The autosomal recessive disorder Glycogen Storage Disease Type II (GSDII) is caused by a deficiency in the lysosomal enzyme acid -glucosidase. We have optimised a procedure to use fluorescent DNA sequencing technology to screen for mutations within the -glucosidase gene from UK patients with GSDII.
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