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229 related items for PubMed ID: 17764084

  • 1. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
    Sperandeo MP, Andria G, Sebastio G.
    Hum Mutat; 2008 Jan; 29(1):14-21. PubMed ID: 17764084
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  • 3. Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
    Sebastio G, Sperandeo MP, Andria G.
    Am J Med Genet C Semin Med Genet; 2011 Feb 15; 157C(1):54-62. PubMed ID: 21308987
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  • 8. Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.
    Toivonen M, Mykkänen J, Aula P, Simell O, Savontaus ML, Huoponen K.
    Biochem Biophys Res Commun; 2002 Mar 15; 291(5):1173-9. PubMed ID: 11883940
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  • 9. Lysinuric protein intolerance: mechanisms of pathophysiology.
    Palacín M, Bertran J, Chillarón J, Estévez R, Zorzano A.
    Mol Genet Metab; 2004 Apr 15; 81 Suppl 1():S27-37. PubMed ID: 15050971
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  • 10. Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.
    Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Gatti R, Dionisi-Vici C, Martinelli D, Goffredo BM, Font-Llitjós M, Mariani F, Luisetti M, Dall'Asta V.
    Mol Genet Metab; 2012 Apr 15; 105(4):585-9. PubMed ID: 22325938
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  • 11. A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
    Sperandeo MP, Paladino S, Maiuri L, Maroupulos GD, Zurzolo C, Taglialatela M, Andria G, Sebastio G.
    Eur J Hum Genet; 2005 May 15; 13(5):628-34. PubMed ID: 15756301
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  • 12. Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).
    Tringham M, Kurko J, Tanner L, Tuikkala J, Nevalainen OS, Niinikoski H, Näntö-Salonen K, Hietala M, Simell O, Mykkänen J.
    Mol Genet Metab; 2012 Mar 15; 105(3):408-15. PubMed ID: 22221392
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  • 13. Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
    Font-Llitjós M, Rodríguez-Santiago B, Espino M, Sillué R, Mañas S, Gómez L, Pérez-Jurado LA, Palacín M, Nunes V.
    Eur J Hum Genet; 2009 Jan 15; 17(1):71-9. PubMed ID: 18716612
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  • 14. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M.
    Hum Genet; 2008 Oct 15; 124(3):318. PubMed ID: 18846671
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  • 15. Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations.
    Toivonen M, Tringham M, Kurko J, Terho P, Simell O, Heiskanen KM, Mykkänen J.
    Gen Physiol Biophys; 2013 Dec 15; 32(4):479-88. PubMed ID: 23940088
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  • 18. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M, Nunes V.
    Hum Genet; 2008 Oct 15; 124(3):317. PubMed ID: 18846668
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  • 19. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
    Font-Llitjós M.
    Hum Genet; 2008 Oct 15; 124(3):317. PubMed ID: 18846670
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  • 20. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 15; 56(3):105-52. PubMed ID: 19728970
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