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.
Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α-glucosidase gene
✍ Scribed by Marian A Kroos; Dik van Leenen; Jan Verbiest; Arnold JJ Reuser; Monique MP Hermans
- Book ID
- 110887785
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 391 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0009-9163
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