The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

Phosphatidylinositol glycan class A (PIGA) is involved in the first step of glycosylphosphatidylinositol (GPI) biosynthesis. Many proteins, including CD55 and CD59, are anchored to the cell by GPI. Loss of CD55 and CD59 on erythrocytes causes complement-mediated lysis in paroxysmal nocturnal hemoglo...

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Detalhes bibliográficos
Main Authors: Johnston, Jennifer J., Gropman, Andrea L., Sapp, Julie C., Teer, Jamie K., Martin, Jodie M., Liu, Cyndi F., Yuan, Xuan, Ye, Zhaohui, Cheng, Linzhao, Brodsky, Robert A., Biesecker, Leslie G.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3276655/
https://ncbi.nlm.nih.gov/pubmed/22305531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.11.031
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