文献

J-GLOBAL ID：201202223300888859   整理番号：12A0389181

CHRDL1の変異によって引き起こされたX連鎖球状巨大角膜は,前上葉区増殖におけるベントロプチンの重要な役割を同定する

X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

著者 (30件)： WEBB Tom R. (Inst. of Ophthalmology, Univ. Coll. London, 11-43 Bath Street, London EC1V 9EL, GBR) ,  MATARIN Mar (Inst. of Neurology, Univ. Coll. London, Queen Square, London WC1N 3BG, GBR) ,  GARDNER Jessica C. (Inst. of Ophthalmology, Univ. Coll. London, 11-43 Bath Street, London EC1V 9EL, GBR) ,  KELBERMAN Dan (Inst. of Child Health, Univ. Coll. London, 30 Guilford Street, London WC1N 1EH, GBR) ,  HASSAN Hala (Inst. of Ophthalmology, Univ. Coll. London, 11-43 Bath Street, London EC1V 9EL, GBR) ,  HASSAN Hala (Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, GBR) ,  ANG Wei (School of Women’s and Infants’ Health, The Univ. of Western Australia, Perth 6009, AUS) ,  MICHAELIDES Michel (Inst. of Ophthalmology, Univ. Coll. London, 11-43 Bath Street, London EC1V 9EL, GBR) ,  MICHAELIDES Michel (Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, GBR) ,  RUDDLE Jonathan B. (Dep. of Ophthalmology, Centre for Eye Res. Australia, Univ. of Melbourne, 32 Gisborne Street, East Melbourne ...) ,  PENNELL Craig E. (School of Women’s and Infants’ Health, The Univ. of Western Australia, Perth 6009, AUS) ,  YAZAR Seyhan (Lions Eye Inst., Univ. of Western Australia, Centre for Ophthalmology and Visual Sci., Perth 6009, AUS) ,  KHOR Chiea C. (Singapore Eye Res. Inst. and Singapore National Eye Centre, 11 Third Hospital Avenue, Singapore 168751, SGP) ,  KHOR Chiea C. (Genome Inst. of Singapore, 60 Biopolis Street, Singapore 138672, SGP) ,  AUNG Tin (Singapore Eye Res. Inst. and Singapore National Eye Centre, 11 Third Hospital Avenue, Singapore 168751, SGP) ,  YOGARAJAH Mahinda (Inst. of Neurology, Univ. Coll. London, Queen Square, London WC1N 3BG, GBR) ,  ROBSON Anthony G. (Inst. of Ophthalmology, Univ. Coll. London, 11-43 Bath Street, London EC1V 9EL, GBR) ,  ROBSON Anthony G. (Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, GBR) ,  HOLDER Graham E. (Inst. of Ophthalmology, Univ. Coll. London, 11-43 Bath Street, London EC1V 9EL, GBR) ,  HOLDER Graham E. (Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, GBR) ,  CHEETHAM Michael E. (Inst. of Ophthalmology, Univ. Coll. London, 11-43 Bath Street, London EC1V 9EL, GBR) ,  TRABOULSI Elias I. (Cole Eye Inst., Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA) ,  MOORE Anthony T. (Inst. of Ophthalmology, Univ. Coll. London, 11-43 Bath Street, London EC1V 9EL, GBR) ,  MOORE Anthony T. (Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, GBR) ,  SOWDEN Jane C. (Inst. of Child Health, Univ. Coll. London, 30 Guilford Street, London WC1N 1EH, GBR) ,  SISODIYA Sanjay M. (Inst. of Neurology, Univ. Coll. London, Queen Square, London WC1N 3BG, GBR) ,  MACKEY David A. (Lions Eye Inst., Univ. of Western Australia, Centre for Ophthalmology and Visual Sci., Perth 6009, AUS) ,  TUFT Stephen J. (Inst. of Ophthalmology, Univ. Coll. London, 11-43 Bath Street, London EC1V 9EL, GBR) ,  TUFT Stephen J. (Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, GBR) ,  HARDCASTLE Alison J. (Inst. of Ophthalmology, Univ. Coll. London, 11-43 Bath Street, London EC1V 9EL, GBR)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 90  号： 2  ページ： 247-259  発行年： 2012年02月10日 
JST資料番号： B0360B  ISSN： 0002-9297  資料種別： 逐次刊行物 (A)
発行国： オランダ (NLD)  言語： 英語 (EN)

タイトルに関連する用語 (5件)： 変異 ,  球状巨大角膜 ,  増殖 ,  役割 ,  同定