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H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.
Hasumi H, Hasumi Y, Baba M, Nishi H, Furuya M, Vocke CD, Lang M, Irie N, Esumi C, Merino MJ, Kawahara T, Isono Y, Makiyama K, Warner AC, Haines DC, Wei MH, Zbar B, Hagenau H, Feigenbaum L, Kondo K, Nakaigawa N, Yao M, Metwalli AR, Marston Linehan W, Schmidt LS. Hasumi H, et al. Among authors: nishi h. Hum Mol Genet. 2017 Jan 15;26(2):354-366. doi: 10.1093/hmg/ddw392. Hum Mol Genet. 2017. PMID: 28007907 Free PMC article.
Molecular mechanisms of disease-causing missense mutations.
Stefl S, Nishi H, Petukh M, Panchenko AR, Alexov E. Stefl S, et al. Among authors: nishi h. J Mol Biol. 2013 Nov 1;425(21):3919-36. doi: 10.1016/j.jmb.2013.07.014. Epub 2013 Jul 16. J Mol Biol. 2013. PMID: 23871686 Free PMC article. Review.
846 results