Somatic mutation in paroxysmal nocturnal hemoglobinuria Journal Article
| Author: | Luzzatto, L. |
| Article Title: | Somatic mutation in paroxysmal nocturnal hemoglobinuria |
| Abstract: | The mutation, occurring in a hematopoietic stem cell, creates an erythrocyte clone deficient in proteins capable of blocking complement- mediated lysis. The precise defect lies, however, in the biosynthesis of anchors to tether the proteins. Future research may explain how the clone gains a growth advantage (perhaps shedding light on aplastic anemia). Meanwhile, there remains the challenge of optimal diagnosis and management. |
| Keywords: | leukemia; somatic mutation; gene deletion; mutation; flow cytometry; disease association; membrane proteins; hemoglobin; x chromosome; erythrocyte; hematopoietic stem cell; cell clone; erythrocytes; paroxysmal nocturnal hemoglobinuria; aplastic anemia; hemoglobinuria, paroxysmal; cell surface protein; cd59 antigen; phosphatidylinositol; urine color; glycosylphosphatidylinositol; glycosylphosphatidylinositols; humans; human; article; intravascular hemolysis |
| Journal Title: | Hospital Practice |
| Volume: | 32 |
| Issue: | 9 |
| ISSN: | 2154-8331 |
| Publisher: | Taylor & Francis Group |
| Date Published: | 1997-09-15 |
| Start Page: | 125 |
| End Page: | 131, 135-136, 139-140 |
| Language: | English |
| PUBMED: | 9307598 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 17 March 2017 -- Source: Scopus |
