The identification of five novel mutatio
β
Clare E. Beesley; Anne H. Child; Magdi H. Yacoub
π
Article
π
1998
π
John Wiley and Sons
π
English
β 165 KB
π 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.