Art

J-GLOBAL ID：201802254254405630   Reference number：18A0057678

A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak

暴力的な感情の爆発を示すBardet-Biedl症候群患者で同定した新規なBBS10突然変異

Author (13)： OHTO Tatsuyuki (Univ. Tsukuba, Tsukuba, JPN) ,  ENOKIZONO Takashi (Univ. Tsukuba, Tsukuba, JPN) ,  TANAKA Ryuta (Univ. Tsukuba, Tsukuba, JPN) ,  TANAKA Mai (Univ. Tsukuba, Tsukuba, JPN) ,  SUZUKI Hisato (Univ. Tsukuba, Tsukuba, JPN) ,  SAKAI Aiko (Univ. Tsukuba, Tsukuba, JPN) ,  IMAGAWA Kazuo (Univ. Tsukuba, Tsukuba, JPN) ,  FUKUSHIMA Hiroko (Univ. Tsukuba, Tsukuba, JPN) ,  FUKUSHIMA Takashi (Univ. Tsukuba, Tsukuba, JPN) ,  SUMAZAKI Ryo (Univ. Tsukuba, Tsukuba, JPN) ,  UEHARA Tomoko (Keio Univ. School of Medicine, Tokyo, JPN) ,  TAKENOUCHI Toshiki (Keio Univ. School of Medicine, Tokyo, JPN) ,  KOSAKI Kenjiro (Keio Univ. School of Medicine, Tokyo, JPN)
Material： Human Genome Variation (Web)
Volume： 4  Issue： Aug  Page： WEB ONLY  Publication year： Aug. 2017 
JST Material Number： U1014A  ISSN： 2054-345X  Document type： Article
Article type： 短報  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *infantile disease ,...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=18A0057678&from=J-GLOBAL&jstjournalNo=U1014A") }}

JST classification (3)： Diseases specific to children  (GC08020M) ,  Molecular genetics in general  (EC02010J) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (11)：

• Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet 2013; 21: 8-13.
• Khan SA, Muhammad N, Khan MA, Kamal A, Rehman ZU, Khan S. Genetics of Human Bardet-Biedl Syndrome, an Updates. Clin Genet 2016; 90: 3-15.
• Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A et al. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet 2016; 25: 2283-2294.
• Novas R, Cardenas-Rodriguez M, Irigoin F, Badano JL. Bardet-Biedl syndrome: Is it only cilia dysfunction? FEBS Lett 2015; 589: 3479-3491.
• Cardenas-Rodriguez M, Badano JL. Ciliary biology: understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet C Semin Med Genet 2009; 151C: 263-280.

Terms in the title (7)： 暴力 ,  感情 ,  爆発 ,  Bardet-Biedl症候群 ,  患者 ,  同定 ,  突然変異