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Regulation of lysosomal glycogen metabolism: studies of the actions of mammalian acid α-glucosidases

✍ Scribed by Philip C. Calder; Robert Geddes

Book ID
103120555
Publisher
Elsevier Science
Year
1989
Tongue
English
Weight
926 KB
Volume
21
Category
Article
ISSN
0020-711X

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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