A novel missense mutation in the folliculin gene associated with the renal tumor-only phenotype of Birt-Hogg-Dubé syndrome.

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作者： Takeshi,Sano ^[1] ; Tomohiro,Fukui ^[1] ; Noriyuki,Makita ^[1] ; Kosuke,Shimizu ^[1] ; Jin,Kono ^[1] ; Kimihiko,Masui ^[1] ; Takuma,Sato ^[1] ; Takayuki,Goto ^[1] ; Atsuro,Sawada ^[1] ; Masakazu,Fujimoto ^[2] ; Fumiyoshi,Kojima ^[3] ; Masako,Torishima ^[4] ; Takahito,Wada ^[4] ; Mitsuko,Furuya ^[5] ; Osamu,Ogawa ^[1] ; Takashi,Kobayashi ^[6] ; Shusuke,Akamatsu ^[1]

作者单位： Department of Urology, Kyoto University Hospital, 54 Shogoinkawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan. ^[1] Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan. ^[2] Department of Human Pathology, Wakayama Medical University, Wakayama, Japan. ^[3] Department of Clinical Genetics, Hospital, Kyoto University, Kyoto, Japan. ^[4] GeneticLab Co., Ltd., Sapporo, Japan. ^[5] Department of Urology, Kyoto University Hospital, 54 Shogoinkawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan. Electronic address: selecao@kuhp.kyoto-u.ac.jp. ^[6]

关键词 Folliculin Missense mutation Multiple renal tumors, Hybrid oncocytic/chromophobe tumor, Birt-Hogg-Dubé syndrome

主题词 Birt-Hogg-Dube综合征(Birt-Hogg-Dube Syndrome);人类(Humans);肾肿瘤(Kidney Neoplasms);突变(Mutation);突变, 误义(Mutation, Missense);表型(Phenotype)

DOI 10.1016/j.cancergen.2022.06.001

PMID 35691222

发布时间 2022-08-30

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准确一般字义偏差语意偏离译文作用小提交