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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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Detalhes bibliográficos
Publicado no:Heliyon
Main Authors: Agrahari, Ashish Kumar, Pieroni, Enrico, Gatto, Gianluca, Kumar, Amit
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6820265/
https://ncbi.nlm.nih.gov/pubmed/31687525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.heliyon.2019.e02709
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