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Glycogenosis type II: identification and expression of three novel mutations in the acid α-glucosidase gene causing the infantile form of the disease

✍ Scribed by Anna Lisa E Montalvo; Roberta Cariati; Marta Deganuto; Veronica Guerci; Rodolfo Garcia; Giovanni Ciana; Bruno Bembi; Maria Gabriela Pittis


Book ID
116987450
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
589 KB
Volume
81
Category
Article
ISSN
1096-7192

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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.