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Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
Glycogen storage disease type HI (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. Most GSD-III patients are GDE deficient in both liver and muscle (type IIIa), and some GSD-III patients have GDE absent in liver but retained in muscle (type...
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| Published in: | J Clin Invest |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
American Society for Clinical Investigation
1996
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC507437/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8755644/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118799 |
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