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...

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Detalles Bibliográficos
Autores principales: De Castro, Mauricio, Johnston, Jennifer, Biesecker, Leslie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
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

Internet

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

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