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Simultaneous absence of α-1,4-glucosidase and α-1,6-glucosidase activities (pH 4) in tissues of children with Type II glycogen storage disease

✍ Scribed by Brown, Barbara Illingworth; Brown, David Henry; Jeffrey, Peter L.

Book ID
123613020
Publisher
American Chemical Society
Year
1970
Tongue
English
Weight
689 KB
Volume
9
Category
Article
ISSN
0006-2960

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The identification of five novel mutatio
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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.

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The autosomal recessive glycogen storage disease type I1 is associated with a deficiency of lysosomal a-glucosidase (acid maltase). This paper reports on the mutations in the lysosomal a-glucosidase alleles of an adult patient. A G-1927 to A transition was discovered in exon 14 causing the substitut