Art

J-GLOBAL ID：201702224893109491   Reference number：17A0283512

Novel mutations in PDE4D and molecular pathology of acrodysostosis without hormone resistance

PDE4Dの新規変異とホルモン耐性を伴わない先端骨形成不全症の分子病理学

Author (16)： KANAME Tadashi (National Center for Child Health and Dev., JPN) ,  KANAME Tadashi (National Res. Inst. for Child Health and Dev.) ,  YANAGI Kumiko (National Center for Child Health and Dev., JPN) ,  YANAGI Kumiko (National Res. Inst. for Child Health and Dev.) ,  KI Chang-Seok (Sungkyunkwan Univ. School of Medicine) ,  NIIKAWA Norio (Health Sci. Univ. Hokkaido) ,  NISHIMURA Gen (Tokyo Metropolitan Children’s Medical Center) ,  MASTUURA Nobuo (Seitoku Univ.) ,  ISO Manami (National Center for Child Health and Dev., JPN) ,  ISO Manami (National Res. Inst. for Child Health and Dev.) ,  KUROKI Yoko (National Center for Child Health and Dev., JPN) ,  KUROKI Yoko (National Res. Inst. for Child Health and Dev.) ,  MIZUNO Seiji (Central Hospital) ,  CHO Sung Yoon (Sungkyunkwan Univ. School of Medicine) ,  JIN Dong-Kyu (Sungkyunkwan Univ. School of Medicine) ,  MATSUBARA Yoichi (National Res. Inst. for Child Health and Dev.)
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： 61st(Web)  Page： ROMBUNNO.Mon(2)-P-174 (WEB ONLY)  Publication year： 2016 
JST Material Number： L1204A  Document type： Proceedings
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *PDE4D ,...

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JST classification (2)： Genetic variation  (EC01030Y) ,  Congenital diseases,deformities in general.  (GD03010V)

Substance index (1)： cAMP

Terms in the title (4)： 変異 ,  ホルモン耐性 ,  先端骨形成不全症 ,  分子病理学