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Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.
Matsuo H, Chiba T, Nagamori S, Nakayama A, Domoto H, Phetdee K, Wiriyasermkul P, Kikuchi Y, Oda T, Nishiyama J, Nakamura T, Morimoto Y, Kamakura K, Sakurai Y, Nonoyama S, Kanai Y, Shinomiya N. Matsuo H, et al. Among authors: nonoyama s. Am J Hum Genet. 2008 Dec;83(6):744-51. doi: 10.1016/j.ajhg.2008.11.001. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026395 Free PMC article.
Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.
Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Ikebuchi Y, Ito K, Kusanagi Y, Chiba T, Tadokoro S, Takada Y, Oikawa Y, Inoue H, Suzuki K, Okada R, Nishiyama J, Domoto H, Watanabe S, Fujita M, Morimoto Y, Naito M, Nishio K, Hishida A, Wakai K, Asai Y, Niwa K, Kamakura K, Nonoyama S, Sakurai Y, Hosoya T, Kanai Y, Suzuki H, Hamajima N, Shinomiya N. Matsuo H, et al. Among authors: nonoyama s. Sci Transl Med. 2009 Nov 4;1(5):5ra11. doi: 10.1126/scitranslmed.3000237. Sci Transl Med. 2009. PMID: 20368174
Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).
Kumaki S, Ishii N, Minegishi M, Ohashi Y, Hakozaki I, Nonoyama S, Imai K, Morio T, Tsuge I, Sakiyama Y, Miyanoshita A, Miura J, Mayumi M, Heike T, Katamura K, Takada H, Izumi I, Kamizono J, Hibi S, Sasaki H, Kimura M, Kikuta A, Date Y, Sako M, Tanaka H, Sano K, Sugamura K, Tsuchiya S. Kumaki S, et al. Among authors: nonoyama s. Hum Genet. 2000 Oct;107(4):406-8. doi: 10.1007/s004390000381. Hum Genet. 2000. PMID: 11129345
Clinical course of patients with WASP gene mutations.
Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S. Imai K, et al. Among authors: nonoyama s. Blood. 2004 Jan 15;103(2):456-64. doi: 10.1182/blood-2003-05-1480. Epub 2003 Sep 11. Blood. 2004. PMID: 12969986 Free article.
291 results