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A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

✍ Scribed by Tyynela, J.


Book ID
111746468
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
905 KB
Volume
19
Category
Article
ISSN
0261-4189

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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.