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1 Prchal J: Primary polycythemias. Curr Opinion Hematol 1995, 2:146-152.
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2 Emanuel P, Eaves C, Broudy V, Papayannopoulou T, Moore M, D' Andrea A, et al.: Familial and congenital polycythemia in three unrelated families. Blood 1992, 79:3019-3030.
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3 Juvonen E, Ikkala E, Fyhrquist F, Ruutu T: Autosomal dominant erythrocytosis causes by increased sensitivity to erythropoietin. Blood 1991, 78:3066-3069.
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9
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Two microsatellite repeat polymorphisms in the 5′ untranslated region of the erythropoietin receptor gene
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9 Sokol L, Prchal J: Two microsatellite repeat polymorphisms in the 5′ untranslated region of the erythropoietin receptor gene. Hum Mol Genet 1994, 3:219.
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Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis
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10 De la Chapelle A, Traskelin A-L, Juvonen E: Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci U S A 1993, 90:4495-4499.
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11
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Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia
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11 Sokol L, Prchal JF, D' Andrea AD, Rado TA, Prchal JT: Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. Exp Hematol 1994, 22:447-453.
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12
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0029050709
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Primary familial polycythemia: A frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin
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12 Sokol L, Luhovy M, Guan Y, Prchal JF, Semenza GL, Prchal JT: Primary familial polycythemia: A frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood 1995, 86:15-22.
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Sokol, L.1
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13
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0030954685
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Two new EPO receptor mutations: Truncated EPO receptors are most frequently associated with primary familial and congenital polycylhemias
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13 Kralovics R, Indrak K, Stopka T, Berman B, Prchal J, Prchal J: Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycylhemias. Blood 1997, 90:2057-2061.
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Kralovics, R.1
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14
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Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia
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14 Kralovics R, Sokol L, Prchal JT: Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. J Clin Invest 1998, 102:124-129. In this report, the authors demonstrate that mutations of the erythropoeitin receptor may have various degree of phenotypic expression, and point out the existence of polythemia compensating factors.
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15
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9844244548
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Primary familial polycythaemia associated with novel point mutation in the erythropoietin receptor
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15 Furukawa T, Narita M, Sakaue M, Otsuka T, Kuroha T, Masuko M, et al.: Primary familial polycythaemia associated with novel point mutation in the erythropoietin receptor. Br J Haematol 1997, 99:222-227.
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16
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0001305156
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Low frequency of erythropoietin receptor gene mutations in subjects with primary familial and congenital polycythemia
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16 Kralovics R, Divoka M, Stopka T, Prchal JT: Low frequency of erythropoietin receptor gene mutations in subjects with primary familial and congenital polycythemia [abstract]. Blood 1997, 90:16.
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A novel mutation in the erythropoietin receptor (EPOR gene leads to an extensive COOH-terminal truncation of the EPOR associated with familial erythrocytosis)
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17 Arcasoy MO, Sinning JG, Segal HM, Forget BG: A novel mutation in the erythropoietin receptor (EPOR gene leads to an extensive COOH-terminal truncation of the EPOR associated with familial erythrocytosis) [abstract]. Blood 1998, 92:205.
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