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.
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II
β Scribed by Pittis, Maria Gabriela ;Montalvo, Anna Lisa E. ;Miocic, Snjezana ;Martini, Cristina ;Deganuto, Marta ;Candusso, Manila ;Ciana, Giovanni ;Bembi, Bruno
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 107 KB
- Volume
- 121A
- Category
- Article
- ISSN
- 0148-7299
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