1 | GSS
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| The role of the glycine triad in human glutathione synthetase.
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| Dinescu A, Brown TR, Barelier S, Cundari TR, Anderson ME.
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| Biochem Biophys Res Commun 400(4):511-6. Epub 2010 Aug 26.
2010
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2 | GSS
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| Alternative RNA splicing in expression of the glutathione synthetase gene in human cells.
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| Uchida M, Sugaya M, Kanamaru T, Hisatomi H.
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| Mol Biol Rep 37(4):2105-9. Epub 2009 Aug 12.
2010
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3 | GSS
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| Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
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| Burstedt MS, Ristoff E, Larsson A, Wachtmeister L.
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| Ophthalmology 116(2):324-31. Epub 2008 Dec 27.
2009
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4 | GSS
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| Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency.
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| Ristoff E, Burstedt M, Larsson A, Wachtmeister L.
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| J Inherit Metab Dis 30(1):102. Epub 2007 Jan 5.
2007
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5 | GSS, GSDE
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| Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
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| Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S.
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| Hum Genet 116(5):384-9. Epub 2005 Feb 17. 2005
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6 | GSS,NFE2L2
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| Cloning and characterization of the human glutathione synthetase 5'-flanking region.
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| Lee TD, Yang H, Whang J, Lu SC.
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| Biochem J 390(Pt 2):521-8. 2005
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7 | GSS
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| Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
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| Njalsson R, Carlsson K, Bhansali V, Luo JL, Nilsson L, Ladenstein R, Anderson M, Larsson A, Norgren S.
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| Biochem J 381(Pt 2):489-94. 2004
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8 | GSS
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| Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
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| Al-Jishi E, et al.
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| Clin Genet 55(6):444-9. 1999
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9 | GSS
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| Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
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| Dahl N, Pigg M, Ristoff E, Gali R, Carlsson B, Mannervik B, Larsson A, Board P.
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| Hum Mol Genet 6(7):1147-52. 1997
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10 | GSS
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| Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
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| Shi ZZ, et al.
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| Nat Genet 14 : 361-365. 1996
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11 | GSS
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| The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2.
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| Webb GC, et al.
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| Genomics 30 : 617-619. 1995
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12 | GSS
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| Sequencing and expression of a cDNA for human glutathione synthetase.
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| Gali RR, et al.
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| Biochem J 310 : 353-358. 1995
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