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A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly increasing knowledge about the genetic origins, specific features and potenti...
Uloženo v:
| Vydáno v: | Orphanet J Rare Dis |
|---|---|
| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6260762/ https://ncbi.nlm.nih.gov/pubmed/30477555 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0955-7 |
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