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Molecular genetics of late onset glycogen storage disease II in Italy
Glycogen Storage Disease Type II (GSDII) is a recessively inherited disorder due to the deficiency of acid α-glucosidase (GAA) that results in glycogen accumulation in the lysosomes. The molecular analysis of the GAA gene was performed on 45 Italian patients with late onset GSDII. DHPLC analysis rev...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Pacini Editore SpA
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2949324/ https://ncbi.nlm.nih.gov/pubmed/17915575 |
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