1 | NT5C3A, P5N1D
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| New missense homozygous mutation (Q270Ter) in the pyrimidine 5' nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia.
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| Warang P, Kedar P, Kar R, Ghosh K, Colah R.
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| Ann Hematol 92(5):715-7. doi: 10.1007/s00277-012-1616-x. Epub 2012 Nov 9. No abstract available.
2013
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2 | NT5C3A
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| Structural basis of substrate specificity and selectivity of murine cytosolic 5'-nucleotidase III.
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| Grobosky CL, Lopez JB, Rennie S, Skopelitis DJ, Wiest AT, Bingman CA, Bitto E.
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| J Mol Biol 423(4):540-54. doi: 10.1016/j.jmb.2012.08.014. Epub 2012 Aug 25.
2012
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3 | NT5C3A
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| Cytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and functional genomics.
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| Aksoy P, Zhu MJ, Kalari KR, Moon I, Pelleymounter LL, Eckloff BW, Wieben ED, Yee VC, Weinshilboum RM, Wang L.
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| Pharmacogenet Genomics 19(8):567-76. doi: 10.1097/FPC.0b013e32832c14b8.
2009
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4 | NT5C3A, P5N1D
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| Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations.
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| Chiarelli LR, Morera SM, Galizzi A, Fermo E, Zanella A, Valentini G.
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| Blood Cells Mol Dis 40(3):295-301.
2008
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5 | NT5C3A, P5N1D
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| Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
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| Zanella A, Bianchi P, Fermo E, Valentini G.
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| Br J Haematol 133(2):113-23. Review. 2006
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6 | NT5C3A, P5N1D
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| Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview.
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| Chiarelli LR, Fermo E, Zanella A, Valentini G.
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| Hematology 11(1):67-72. Review. 2006
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7 | NT5C3A, P5N1D
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| Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia.
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| Chiarelli LR, Bianchi P, Fermo E, Galizzi A, Iadarola P, Mattevi A, Zanella A, Valentini G.
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| Blood 105(8):3340-5. Epub 2004 Dec 16. 2005
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8 | NT5C3A, P5N1D
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| Evidence for essential catalytic determinants for human erythrocyte pyrimidine 5'-nucleotidase.
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| Amici A, Ciccioli K, Naponelli V, Raffaelli N, Magni G.
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| Cell Mol Life Sci 62(14):1613-20. 2005
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9 | NT5C3A, P5N1D
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| Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency.
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| Kanno H, Takizawa T, Miwa S, Fujii H.
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| Br J Haematol 126(2):265-71. 2004
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10 | KLK5, NT5C3A, RP9
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| Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.
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| Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF.
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| Eur J Hum Genet 10(4):245-9. 2002
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11 | NT5C3A
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| Human erythrocyte pyrimidine 5'-nucleotidase, PN-I.
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| Amici A, Magni G.
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| Arch Biochem Biophys 397(2):184-90. 2002
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12 | NT5C3A, P5N1D
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| Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.
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| Marinaki AM, Escuredo E, Duley JA, Simmonds HA, Amici A, Naponelli V, Magni G, Seip M, Ben-Bassat I, Harley EH, Thein SL, Rees DC.
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| Blood 97(11):3327-32. 2001
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