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Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
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. Shoji Y, et al. Among authors: ihara k. Hum Mutat. 2002 Nov;20(5):375-81. doi: 10.1002/humu.10140. Hum Mutat. 2002. PMID: 12402335
Founder effect of the C9 R95X mutation in Orientals.
Khajoee V, Ihara K, Kira R, Takemoto M, Torisu H, Sakai Y, Guanjun J, Hee PM, Tokunaga K, Hara T. Khajoee V, et al. Among authors: ihara k. Hum Genet. 2003 Mar;112(3):244-8. doi: 10.1007/s00439-002-0870-8. Epub 2003 Jan 9. Hum Genet. 2003. PMID: 12596049
907 results