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Clinical utility gene card for McArdle disease
Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). OMIM# of the disease #232600. Name of the analysed genes or DNA/chromosome segments Muscle glycogen phospho...
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| Publicado en: | Eur J Hum Genet |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Springer International Publishing
2018
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5945672/ https://ncbi.nlm.nih.gov/pubmed/29371640 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0070-6 |
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