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