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Canine glycogen storage disease type II a biochemical study of an acid α-glucosidase-deficient Lapland dog

✍ Scribed by Walvoort, H.C.; Slee, R.G.; Koster, J.F.


Book ID
125457437
Publisher
Elsevier Science
Year
1982
Tongue
English
Weight
489 KB
Volume
715
Category
Article
ISSN
0304-4165

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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