Ładuje się......
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...
Zapisane w:
| Wydane w: | Orphanet J Rare Dis |
|---|---|
| Główni autorzy: | , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2017
|
| Hasła przedmiotowe: | |
| Dostęp online: | 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 |
| Etykiety: |
Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!
|