1 | ASL
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| Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
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| Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, Navas P, Basso G, Sartori G, Salviati L.
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| J Biol Chem 284(42):28926-34. Epub 2009 Aug 24.PMID: 19703900 2009
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2 | ASL
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| Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
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| Ficicioglu C, Mandell R, Shih VE.
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| Mol Genet Metab 98(3):273-7. Epub 2009 Jun 25.PMID: 19635676 2009
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3 | ASL,ASLP1,ASLP2
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| Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
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| Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB.
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| Hum Mutat 28(7):694-702. 2007
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4 | ASL
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| Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
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| Linnebank M, Tschiedel E, Haberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG.
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| Hum Genet 111(4-5):350-9. 2002
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5 | ASL
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| A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
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| Tanaka T, Nagao M, Mori T, Tsutsumi H.
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| Tohoku J Exp Med 198(2):119-24. 2002
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6 | ASL
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| Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.
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| Sampaleanu LM, Vallee F, Thompson GD, Howell PL.
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| Biochemistry 40(51):15570-80. 2001
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7 | ASL
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| Human argininosuccinate lyase: a structural basis for intragenic complementation.
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| Turner MA, Simpson A, McInnes RR, Howell PL.
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| Proc Natl Acad Sci U S A 94(17):9063-8. 1997
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8 | ASL
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| Analysis of naturally occuring and site-directed mutations in the argininosuccinate lyase gene.
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| Barbosa P, et al.
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| J Biol Chem 266 : 5286-5290. 1991
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9 | ASL
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| Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.
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| Abramson RD, et al.
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| Genomics 10 : 126-132. 1991
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10 | ASL
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| Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
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| Walker DC, McCloskey DA, Simard LR, McInnes RR.
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| Proc Natl Acad Sci U S A 87(24):9625-9. 1990
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11 | ASL, ASLL
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| cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.
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| Todd S, McGill JR, McCombs JL, Moore CM, Weider I, Naylor SL.
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| Genomics 4 : 53-59. 1989
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12 | ASL
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| Human argininosuccinate lyase (ASL) gene is located at 7cen-q11.2.
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| Todd S, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 704. 1987
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13 | ASL
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| Argininosuccinate lyase deficincy : evidence for heterogeneous structural gene mutations by immunoblotting.
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| Simard L, et al.
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| Am J Hum Genet 39 : 38-51. 1986
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14 | OTC, CPS1, ARG1, ASL, CTLN1
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| Mammalian urea cycle enzymes.
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| Jackson MJ, et al.
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| Annu Rev Genet 20 : 431-464. 1986
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15 | ASL, ASLL
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| Cloning and sequence analysis of cDNA for human argininosuccinate lyase.
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| O'Brien WE, et al.
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| Proc Natl Acad Sci U S A 83 : 7211-7215. 1986
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16 | ASL
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| Regional assignment of DIA2, GUSB and ASL on chromosome 7.
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| Baeteman MA, et al.
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| (HGM7) Cytogenet Cell Genet 37 : 406-407. 1984
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17 | ASL
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| Argininosuccinic aciduria : assignment of the argininosuccinate lyase gene to the pter-q22 region of human chromosome 7 by autoradiography.
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| Naylor SL, et al.
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| Proc Natl Acad Sci U S A 75 : 6159-6162. 1978
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