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Journal Abstract Search

323 related items for PubMed ID: 18846631

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  • 6. Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
    Naylor SL, Klebe RJ, Shows TB.
    Proc Natl Acad Sci U S A; 1978 Dec; 75(12):6159-62. PubMed ID: 282632
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  • 8. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M, Nunes V.
    Hum Genet; 2008 Oct; 124(3):317. PubMed ID: 18846668
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  • 9. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
    Linnebank M, Tschiedel E, Häberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG.
    Hum Genet; 2002 Oct; 111(4-5):350-9. PubMed ID: 12384776
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  • 11. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
    Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB.
    Hum Mutat; 2007 Jul; 28(7):694-702. PubMed ID: 17326097
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  • 12. Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.
    McInnes RR, Shih V, Chilton S.
    Proc Natl Acad Sci U S A; 1984 Jul; 81(14):4480-4. PubMed ID: 6589607
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  • 15. A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
    Tanaka T, Nagao M, Mori T, Tsutsumi H.
    Tohoku J Exp Med; 2002 Oct; 198(2):119-24. PubMed ID: 12512996
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  • 18. High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
    van Spronsen FJ, Reijngoud DJ, Verhoeven NM, Soorani-Lunsing RJ, Jakobs C, Sijens PE.
    Mol Genet Metab; 2006 Nov; 89(3):274-6. PubMed ID: 16580861
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