文献

J-GLOBAL ID：201202298199210595   整理番号：12A0226598

精神遅滞および橋と小脳の低形成による小頭症(MICPCH)のある患者における新たな遺伝子間重複とCASKの変異

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

著者 (11件)： HAYASHI Shin (Tokyo Medical and Dental Univ., Dep. of Molecular Cytogenetics, Medical Res. Inst. and School of Biomedical Sci. ...) ,  HAYASHI Shin (Hard Tissue Genome Res. Center, Tokyo Medical and Dental Univ., Tokyo, JPN) ,  OKAMOTO Nobuhiko (Osaka Medical Center and Res. Inst. for Maternal and Child Health, Dep. of Planning and Res., Osaka, JPN) ,  CHINEN Yasutsugu (Univ. of the Ryukyu School of Medicine, Dep. of Pediatrics, Okinawa, JPN) ,  TAKANASHI Jun-Ichi (Kameda Medical Center, Dep. of Pediatrics, Chiba, JPN) ,  MAKITA Yoshio (Education Center, Asahikawa Medical Coll., Asahikawa, JPN) ,  HATA Akira (Chiba Univ. Graduate School of Medicine, Dep. of Public Health, Chiba, JPN) ,  IMOTO Issei (Tokyo Medical and Dental Univ., Dep. of Molecular Cytogenetics, Medical Res. Inst. and School of Biomedical Sci. ...) ,  IMOTO Issei (The Univ. of Tokushima, Dep. of Human Genetics and Public Health Graduate School of Medical Sci., Tokushima, JPN) ,  INAZAWA Johji (Tokyo Medical and Dental Univ., Dep. of Molecular Cytogenetics, Medical Res. Inst. and School of Biomedical Sci. ...) ,  INAZAWA Johji (Tokyo Medical and Dental Univ., Global Center of Excellence (GCOE) Program for ‘International Res. Center for ...)
資料名： Human Genetics  (Human Genetics)
巻： 131  号： 1  ページ： 99-110  発行年： 2012年01月 
JST資料番号： E0781B  ISSN： 0340-6717  CODEN： HUGEDQ  資料種別： 逐次刊行物 (A)
発行国： ドイツ (DEU)  言語： 英語 (EN)

タイトルに関連する用語 (7件)： 精神遅滞 ,  橋 ,  小脳 ,  低形成 ,  小頭症 ,  患者 ,  変異