| 1 | NP, SUPV3L1
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| Human Mitochondrial SUV3 and Polynucleotide Phosphorylase Form a 330-kDa Heteropentamer to Cooperatively Degrade Double-stranded RNA with a 3'-to-5' Directionality.
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| Wang DD, Shu Z, Lieser SA, Chen PL, Lee WH.
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| J Biol Chem 284(31):20812-21. Epub 2009 Jun 9.
2009
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| 2 | NP
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| The G51S purine nucleoside phosphorylase polymorphism is associated with cognitive decline in Alzheimer's disease patients.
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| Tumini E, Porcellini E, Chiappelli M, Conti CM, Beraudi A, Poli A, Caciagli F, Doyle R, Conti P, Licastro F.
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| Hum Psychopharmacol 22(2):75-80.
2007
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| 3 | NP
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| Structures of human purine nucleoside phosphorylase complexed with inosine and ddI.
|
| Canduri F, dos Santos DM, Silva RG, Mendes MA, Basso LA, Palma MS, de Azevedo WF, Santos DS.
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| Biochem Biophys Res Commun 313(4):907-14. 2004
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| 4 | DFNA23, IDDM11, MCOP1, MNG1, NP, SPTB
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| Current status of human chromosome 14.
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| Kamnasaran D, Cox DW.
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| J Med Genet 39(2):81-90. Review. 2002
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| 5 | NP, NPHD
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| Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.
|
| Dalal I, Grunebaum E, Cohen A, Roifman CM.
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| Clin Genet 59(6):430-7.
2001
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| 6 | NP
|
| Mutations in purine nucleoside phosphorylase deficiency.
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| Markert ML, et al.
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| Hum Mutat 9 : 118-121. 1997
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| 7 | NP, NPHD
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| Mutations in purine nucleoside phosphorylase deficiency.
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| Markert ML, Finkel BD, McLaughlin TM, Watson TJ, Collard HR, McMahon CP, Andrews LG, Barrett MJ, Ward FE.
|
| Hum Mutat 9(2):118-21.
1997
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| 8 | NP
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| Two novel missense and frameshift mutations in exon 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.
|
| Pannicke U, et al.
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| Hum Genet 98 : 706-709. 1996
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| 9 | NP
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| Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.
|
| Aust MR, et al.
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| Am J Hum Genet 51 : 763-772. 1992
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| 10 | NP
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| SRO refinement for nucleoside phosphorylase by deletion mapping ofchromosome 14.
|
| Remes GM, et al.
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| (HGM7) Cytogenet Cell Genet 37 : 568. 1984
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| 11 | NP
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| Intrachromosomal gene mapping in man : assignment of nucleoside phosphorylase to region 14 cen-to-14q21 by interspecific hybridization of cells with a t(X;14)(p22;q21) translocation.
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| Francke U, et al.
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| Somatic Cell Genet 2 : 27-40. 1976
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| 12 | NP
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| Nucleoside phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity.
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| Giblett ER, et al.
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| Lancet 1 : 1010-1013. 1975
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| 13 | NP
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| Assignment of nucleoside phosphorylase to D-14 and localization of X-linked loci in man by somatic cell genetics.
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| Ricciuti F, et al.
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| Nature New Biol 241 : 180. 1973
|