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The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
Glycogen-storage disease type II (GSDII) is caused by the deficiency of lysosomal alpha-glucosidase (acid maltase). This paper reports on the analysis of the mutant alleles in an American black patient with an adult form of GSDII (GM1935). The lysosomal alpha-glucosidase precursor of this patient ha...
Shranjeno v:
| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1993
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1132230/ https://ncbi.nlm.nih.gov/pubmed/8094613 |
| Oznake: |
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