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A novel acid α-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II

✍ Scribed by M. A. Kroos; A. E. Waitfield; M. Joosse; B. Winchester; A. J. J. Reuser; K. D. MacDermot

Book ID
110224378
Publisher
Springer
Year
1997
Tongue
English
Weight
37 KB
Volume
20
Category
Article
ISSN
0141-8955

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✍ Clare E. Beesley; Anne H. Child; Magdi H. Yacoub 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB 👁 2 views

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.