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Determining the prevalence of McArdle disease from gene frequency by analysis of next generation sequencing data: McArdle prevalence by NGS data
PURPOSE: McArdle disease is one of the most common glycogen storage disorders. Although the exact prevalence is not known, it has been estimated to be 1 in 100,000 patients in the United States. More than 100 mutations in PYGM have been associated with this disorder. McArdle disease has significant...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561039/ https://www.ncbi.nlm.nih.gov/pubmed/25741863 http://dx.doi.org/10.1038/gim.2015.9 |