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Molecular pathogenesis of human CD59 deficiency
OBJECTIVE: To characterize all 4 mutations described for CD59 congenital deficiency. METHODS: The 4 mutations, p.Cys64Tyr, p.Asp24Val, p.Asp24Valfs*, and p.Ala16Alafs*, were described in 13 individuals with CD59 malfunction. All 13 presented with recurrent Guillain-Barré syndrome or chronic inflamma...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244018/ https://www.ncbi.nlm.nih.gov/pubmed/30533526 http://dx.doi.org/10.1212/NXG.0000000000000280 |