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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...

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Detalles Bibliográficos
Autores principales:	Karbian, Netanel, Eshed-Eisenbach, Yael, Tabib, Adi, Hoizman, Hila, Morgan, B. Paul, Schueler-Furman, Ora, Peles, Elior, Mevorach, Dror
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2018
Materias:	Article
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

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