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Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
Acid maltase, or acid alpha glucosidase (GAA), is a lysosomal enzyme that hydrolyzes glycogen to glucose and is deficient in glycogen storage disease type II. We have previously isolated a partial cDNA (1.9 kb) for human GAA and detected abnormalities of mRNA in two infantile-onset and one adult-ons...
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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
1990
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1683757/ https://ncbi.nlm.nih.gov/pubmed/2112341 |
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