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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Bibliografische gegevens
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2012
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Online toegang: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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