Art

J-GLOBAL ID：201702267996941798   Reference number：17A1944860

Germline whole deletion and somatic nonsense mutation of the CDC73 gene in a boy with primary hyperparathyroidism

原発性副甲状腺亢進男児におけるCDC73遺伝子の生殖細胞全欠失変異と体細胞ナンセンス変異

Author (11)： HATABU Naomi (Tokyo Medical Center, Tokyo, JPN) ,  KATORI Naho (Tokyo Medical Center, Tokyo, JPN) ,  MAEDA Naonori (Tokyo Medical Center, Tokyo, JPN) ,  SUZUKI Eri (Tokyo Medical Center, Tokyo, JPN) ,  KOMIYAMA Osamu (Tokyo Medical Center, Tokyo, JPN) ,  TSUSUI Hidemitu (Tokyo Medical Univ., Tokyo, JPN) ,  NAGAO Toshitaka (Tokyo Medical Univ., Tokyo, JPN) ,  SATO Takeshi (Keio Univ. School of Medicine, Tokyo, JPN) ,  ISHII Tomohiro (Keio Univ. School of Medicine, Tokyo, JPN) ,  HASEGAWA Tomonobu (Keio Univ. School of Medicine, Tokyo, JPN) ,  YAMAZAWA Kazuki (Tokyo Medical Center, Tokyo, JPN)
Material： 日本人類遺伝学会大会プログラム・抄録集  (日本人類遺伝学会大会)
Volume： 62nd  Page： 245  Publication year： 2017 
JST Material Number： L1204A  Document type： Proceedings
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *Primary hyperparathyroidism ,...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=17A1944860&from=J-GLOBAL&jstjournalNo=L1204A") }}

JST classification (2)： Endocrine diseases  (GL03000I) ,  Genetic variation  (EC01030Y)

Terms in the title (6)： 原発性副甲状腺亢進 ,  遺伝子 ,  生殖細胞 ,  欠失変異 ,  体細胞 ,  ナンセンス変異