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Genomic organisation of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21
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Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene
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Bessler, M., Mason. P.J., Hillmen. P., Miyata, T., Yamada, N., Takeda, J., Luzzatto, L. & Kinoshita, T. (1994b) Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. EMBO Journal. 13, 110-117.
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5
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0028290901
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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., Takeda, J., Miyata, T., Inoue, N., Nishimura, J., Kitani, T., Maeda, K. & Kinoshita, T. (1994) Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria. Blood. 83, 3126-3131.
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Severe haemophilia A in southern France: Detection of three novel mutations and analysis of factor VIII transcripts
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Maugard, C., Tuffery, S., Martinez, P.A., Schved, J.F., Gris, J.C., Demaille. J. & Claustres, M. (1997) Severe haemophilia A in southern France: detection of three novel mutations and analysis of factor VIII transcripts. Human Mutation (in press).
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0027412627
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The cloning of PIG-A. a component in early step of GPI-anchor biosynthesis
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8
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0028057618
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Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria
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Miyata, T., Yamada, N., Iida, Y., Nishimura, J., Takeda, J., Kitani, T. & Kinoshita, T. (1994) Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria. New England Journal of Medicine. 330, 249-255.
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9
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0028885951
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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., Mason, P.J., Hillmen, P., Luzzatto, L. & Bessler. M. (1995) Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type. Blood. 86, 4650-4655.
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10
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0029163277
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Somatic mutations of PIG-A in Thai patients with paroxysmal nocturnal hemoglobinuria
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Pramoonjago, P., Wanachiwanawin, W., Chinprasertsak, S., Pattanapanayasat, K., Takeda, J. & Kinoshita. T. (1995) Somatic mutations of PIG-A in Thai patients with paroxysmal nocturnal hemoglobinuria. Blood. 86, 1736-1739.
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11
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0027493961
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Protein truncation test (PTT) for rapid detection of translation-terminating mutations
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The molecular basis of paroxysmal nocturnal hemoglobinuria
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13
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0030050851
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Mentification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients
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Savoia, A., Ianzano, L., Lunardi, C., De Sandre, G., Carotenuto, M., Musto, P. & Zelante, I., (1996) Mentification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients. Human Genetics. 97, 45-48.
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14
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0027310539
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Deficiency of the CPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria
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Takeda, J., Miyata, T., Kawagoe, K., Eda, Y., Endo, Y., Fujita, T., Takahasi, M., Kitani, T. & Kinoshita. T. (1993) Deficiency of the CPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell. 73, 703-711.
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15
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PNH with onset in childhood and adolescence
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0028353422
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Mutations within the Pig A gene in patients with paroxysmal nocturnal hemoglobinuria
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Ware, R.E., Rosse, W.F. & Howard, T.A. (1994) Mutations within the Pig A gene in patients with paroxysmal nocturnal hemoglobinuria. Blood, 83, 2418-2422.
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0028897279
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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., Miyata, T., Maeda, K., Kitani, T., Takeda, J. & Kinoshita, T. (1995) Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nocturnal hemoglobinuria. Blood. 85, 885-892.
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The molecular basis for paroxysmal nocturnal hemoglobinuria
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Yomtovian, R., Prince, G.M. & Medof, M.E. (1993) The molecular basis for paroxysmal nocturnal hemoglobinuria. Transfusion. 33, 852-873.
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