The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal blood disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias. The disease is caused by the deficiency of two glycosylphosphatidylinositols (GPI)-anchored proteins (CD55 and CD59) in the hemopoietic st...

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Detalles Bibliográficos
Autores principales: Agrahari, Ashish Kumar, Pieroni, Enrico, Gatto, Gianluca, Kumar, Amit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820265/
https://www.ncbi.nlm.nih.gov/pubmed/31687525
http://dx.doi.org/10.1016/j.heliyon.2019.e02709

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