Paroxysmal nocturnal hemoglobinuria caused by CN-LOH of constitutional PIGB mutation and 70-kbp microdeletion on 15q

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic stem cell (HSC) disorder characterized by defective synthesis of the glycosylphosphatidylinositol (GPI) anchors as a result of somatic mutations in the X-linked PIGA gene. The disease is acquired. No constitutional PNH has been descri...

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Detaylı Bibliyografya
Yayımlandı:Blood Adv
Asıl Yazarlar: Langemeijer, Saskia, Schaap, Charlotte, Preijers, Frank, Jansen, Joop H., Blijlevens, Nicole, Inoue, Norimitsu, Muus, Petra, Kinoshita, Taroh, Murakami, Yoshiko
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society of Hematology 2020
Konular:
Hematopoiesis and Stem Cells
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7686886/
https://ncbi.nlm.nih.gov/pubmed/33216889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020002210
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