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Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome
BACKGROUND: Congenital myasthenic syndrome caused by mutations in AGRN, a gene encoding a protein with a crucial function at the neuromuscular junction, is a rare disorder. There are few studies in this area. We here present two cases with novel mutations of AGRN of which we further investigated pos...
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| Gepubliceerd in: | Orphanet J Rare Dis |
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| Hoofdauteurs: | , , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2017
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5735900/ https://ncbi.nlm.nih.gov/pubmed/29258548 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0732-z |
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