| 1 | LPI, SLC7A7
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| Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
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| Sebastio G, Sperandeo MP, Andria G.
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| Am J Med Genet C Semin Med Genet 157(1):54-62. doi: 10.1002/ajmg.c.30287. Epub 2011 Feb 9.
2011
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| 2 | LPI, SLC7A7
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| Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
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| Font-Llitjós M, Rodríguez-Santiago B, Espino M, Sillué R, Mañas S, Gómez L, Pérez-Jurado LA, Palacín M, Nunes V.
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| Eur J Hum Genet 17(1):71-9. Epub 2008 Aug 20.
2009
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| 3 | SLC7A7, LPI
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| Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
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| Sperandeo MP, Andria G, Sebastio G.
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| Hum Mutat 29(1):14-21. 2008
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| 4 | SLC7A7, LPI
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| Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7.
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| Puomila K, Simell O, Huoponen K, Mykkanen J.
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| Mol Genet Metab 90(3):298-306. Epub 2006 Dec 29. 2007
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| 5 | LPI, SLC7A7
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| Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
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| Sperandeo MP, Annunziata P, Bozzato A, Piccolo P, Maiuri L, D'Armiento M, Ballabio A, Corso G, Andria G, Borsani G, Sebastio G.
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| Am J Physiol Cell Physiol 293(1):C191-8. Epub 2007 Mar 21.
2007
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| 6 | SLC7A6, SLC7A7, LPI
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| A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
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| Sperandeo MP, Paladino S, Maiuri L, Maroupulos GD, Zurzolo C, Taglialatela M, Andria G, Sebastio G.
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| Eur J Hum Genet 13(5):628-34. 2005
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| 7 | LPI, SLC7A7
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| Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
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| Shoji Y, Noguchi A, Shoji Y, Matsumori M, Takasago Y, Takayanagi M, Yoshida Y, Ihara K, Hara T, Yamaguchi S, Yoshino M, Kaji M, Yamamoto S, Nakai A, Koizumi A, Hokezu Y, Nagamatsu K, Mikami H, Kitajima I, Takada G.
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| Hum Mutat 20(5):375-81. 2002
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| 8 | LPI, SLC7A7
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| SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
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| Borsani G, et al.
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| Nat Genet 21(3):297-301. 1999
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| 9 | LPI, SLC7A7, SLC7A8
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| Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
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| Torrents D, et al.
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| Nat Genet 21(3):293-6. 1999
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| 10 | LPI
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| Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11.
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| Lauteala T, et al.
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| Hereditas 130(1):19-24. 1999
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| 11 | LPI
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| Genetic homogeneity of lysinuric protein intolerance.
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| Lauteala T, et al.
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| Eur J Hum Genet 6 : 612-615. 1998
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| 12 | LPI
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| Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.
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| Lauteala T, Sistonen P, Savontaus ML, Mykkanen J, Simell J, Lukkarinen M, Simell O, Aula P.
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| Am J Hum Genet 60(6):1479-86. 1997
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