| 1 | PIGA, PNH
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| Paroxysmal nocturnal hemoglobinuria induced by the occurrence of BCR-ABL in a PIGA mutant hematopoietic progenitor cell.
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| Tominaga R, Katagiri T, Kataoka K, Wee RK, Maeda A, Gomyo H, Mizuno I, Murayama T, Ogawa S, Nakao S.
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| Leukemia eukemia. 2015 Oct 6. doi: 10.1038/leu.2015.268. [Epub ahead of print] No abstract available.
2015
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| 2 | MCAHS, MCAHS2, PIGA, PIGN, PNH
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| The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria.
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| Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG.
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| Am J Hum Genet 90(2):295-300. Epub 2012 Feb 2. 2012
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| 3 | PIGA, PNH
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| Molecular basis of clonal expansion of hematopoiesis in 2 patients with paroxysmal nocturnal hemoglobinuria (PNH).
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| Inoue N, Izui-Sarumaru T, Murakami Y, Endo Y, Nishimura J, Kurokawa K, Kuwayama M, Shime H, Machii T, Kanakura Y, Meyers G, Wittwer C, Chen Z, Babcock W, Frei-Lahr D, Parker CJ, Kinoshita T.
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| Blood 108(13):4232-6. Epub 2006 Aug 29.
2006
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| 4 | PIGA, PNH
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| The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence of multiple mutations and evidence of a mutational hot spot.
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| Mortazavi Y, Merk B, McIntosh J, Marsh JC, Schrezenmeier H, Rutherford TR; BIOMED II Pathophysiology and Treatment of Aplastic Anaemia Study Group.
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| Blood 101(7):2833-41. Epub 2002 Nov 07. 2003
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| 5 | PIGA, PNH
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| Phenotypes and phosphatidylinositol glycan-class A gene abnormalities during cell differentiation and maturation from precursor cells to mature granulocytes in patients with paroxysmal nocturnal hemoglobinuria.
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| Kai T, Shichishima T, Noji H, Yamamoto T, Okamoto M, Ikeda K, Maruyama Y.
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| Blood 100(10):3812-8. 2002
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| 6 | PIGA, PNH
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| Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria.
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| Yoon JH, Cho HI, Park SS, Chang YH, Kim BK.
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| J Clin Pathol 55(6):410-3. 2002
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| 7 | CD59, CD59D, PIGA, PNH
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| CD59-deficient blood cells and PIG-A gene abnormalities in Japanese patients with aplastic anaemia.
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| Azenishi Y, et al.
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| Br J Haematol 104(3):523-9. 1999
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| 8 | PIGA, PNH
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| The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications.
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| Nafa K, Bessler M, Castro-Malaspina H, Jhanwar S, Luzzatto L.
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| Blood Cells Mol Dis 24 : 370-384. 1998
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| 9 | PIGA, PNH
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| Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria.
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| Brodsky RA, Vala MS, Barber JP, Medof ME, Jones RJ.
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| Proc Natl Acad Sci U S A 94(16):8756-60. 1997
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| 10 | PIGA, PNH
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| Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test.
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| Maugard C, Margueritte G, Tuffery S, Rabesandratana H, Demaille J, Claustres M.
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| Br J Haematol 98(1):21-4. 1997
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| 11 | PIGA, PNH
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| Paroxysmal nocturnal haemoglobinuria due to an 88 bp direct tandem repeat insertion in the PIG-A gene.
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| Pavlu J, Mortazavi Y, Tooze J, Marsh JC, Gordon-Smith EC, Rutherford TR.
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| Br J Haematol 98(2):289-91. 1997
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| 12 | PIGA, PNH
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| Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.
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| Savoia A, et al.
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| Hum Genet 97 : 45-48. 1996
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| 13 | PNH, PIGA
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| Molecular basis of the heterogeneity of expression of glycosyl phosphatidylinositol anchored proteins in paroxysmal nocturnal hemoglobinuria.
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| Endo M, et al.
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| Blood 87 : 2546-2557. 1996
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| 14 | PIGA, PNH
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| Identification and characterization of an inherited mutation of PIG-A ina patient with paroxysmal nocturnal haemoglobinuria.
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| Endo M, et al.
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| Br J Haematol 93 : 590-593. 1996
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| 15 | PIGA, PNH
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| Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type.
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| Nafa K, et al.
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| Blood 86 : 4650-4655. 1995
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| 16 | PIGA, PNH
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| Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nocturnal hemoglobinuria.
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| Yamada N, et al.
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| Blood 85 : 885-892. 1995
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| 17 | PIGA, PNH
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| Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.
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| Bessler M, et al.
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| EMBO J 13 : 110-117. 1994
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| 18 | PIGA, PNH
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| Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria.
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| Miyata T, et al.
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| N Engl J Med 330 : 249-255. 1994
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| 19 | PNH, PIGA
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| Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria.
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| Bessler M, et al.
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| Lancet 343 : 951-953. 1994
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| 20 | PIGA, PNH
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| Development of the glycosylphosphatitylinositol-anchoring defect characteristic for paroxysmal nocturnal hemoglobinuria in patients with aplastic anemia.
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| Schubert J, et al.
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| Blood 83 : 2323-2328. 1994
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| 21 | PNH, PIGA
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| Characterization of genomic PIG-A gene : a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria.
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| Iida Y, et al.
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| Blood 83 : 3126-3131. 1994
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| 22 | PIGA, PNH
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| Mutations in the PIG-A gene causing partial deficiency of GPI-linked surface proteins (PNH II) in patients with paroxysmal nocturnal haemoglobinuria.
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| Bessler M, et al.
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| Br J Haematol 87 : 863-866. 1994
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| 23 | PIGA, PNH
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| Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.
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| Takeda J, et al.
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| Cell 73 : 703-711. 1993
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| 24 | CD59, CD59D, PNH
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| Inherited complete deficiency of 20-kilodalton homologous restriction factor (CD59) as a cause of paroxysmal nocturnal hemoglobinuria.
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| Yamashina M, et al.
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| N Engl J Med 323 : 1184-1189. 1990
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| 25 | PNH
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| Deficiency of glycosyl-phosphatidylinositol-linked membrane glycoproteins of leucocytes in paroxysmal nocturnal hemoglobinuria, description of a new diagnostic cytofluorometric assay.
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| van der Schoot CE, et al.
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| Blood 76 : 1853-1859. 1990
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