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β-galactosidase activity in fibroblasts and tissues from sheep with a lysosomal storage disease

✍ Scribed by Amelia J. Ahern-Rindell; Robert D. Murnane; David J. Prieur


Publisher
Springer
Year
1988
Tongue
English
Weight
706 KB
Volume
26
Category
Article
ISSN
0006-2928

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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.