文献

J-GLOBAL ID：201002255238664242   整理番号：10A1459688

FLVCR1の突然変異は後索運動失調と網膜色素変性症を引き起こす

Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

著者 (16件)： RAJADHYAKSHA Anjali M. (Dep. of Pediatrics, Div. of Pediatric Neurology, New York Presbyterian Hospital, Lab. of Molecular and Developmental ...) ,  RAJADHYAKSHA Anjali M. (Neuroscience Graduate Program of Weill Cornell Graduate School of Biomedical Sciences, Weill Cornell Medical Coll. ...) ,  ELEMENTO Olivier (Dep. of Physiology and Biophysics, Inst. for Computational Biomedicine, Weill Cornell Medical Coll., New York, NY ...) ,  PUFFENBERGER Erik G. (Clinic for Special Children, Strasburg, PA 17579, USA) ,  SCHIERBERL Kathryn C. (Dep. of Pediatrics, Div. of Pediatric Neurology, New York Presbyterian Hospital, Lab. of Molecular and Developmental ...) ,  SCHIERBERL Kathryn C. (Neuroscience Graduate Program of Weill Cornell Graduate School of Biomedical Sciences, Weill Cornell Medical Coll. ...) ,  XIANG Jenny Z. (Dep. of Microbiology and Immunology, Genomics Resources Core Facility, Weill Cornell Medical Coll., New York, NY ...) ,  PUTORTI Maria L. (Lab. de Neurogenetique de la Motricite, Centre de Rech. du Centre Hospitalier de l’Universite de Montreal, Montreal ...) ,  BERCIANO Jose (Dep. of Neurology, Univ. Hospital Marques de Valdecilla, Univ. of Cantabria and Centro de Investigacion Biomedica en ...) ,  POULIN Chantal (Departments of Neurology, Neurosurgery and Pediatrics, Div. of Pediatric Neurology, Montreal Children’s Hospital ...) ,  BRAIS Bernard (Lab. de Neurogenetique de la Motricite, Centre de Rech. du Centre Hospitalier de l’Universite de Montreal, Montreal ...) ,  MICHAELIDES Michel (Oregon Retinal Degeneration Center, Casey Eye Inst., Oregon Health & Sci. Univ., Portland, OR 97239, USA) ,  MICHAELIDES Michel (Inst. of Ophthalmology, Univ. Coll. London, London EC1V 9EL, GBR) ,  MICHAELIDES Michel (Moorfields Eye Hospital, London EC1V 2PD, GBR) ,  WELEBER Richard G. (Oregon Retinal Degeneration Center, Casey Eye Inst., Oregon Health & Sci. Univ., Portland, OR 97239, USA) ,  HIGGINS Joseph J. (Dep. of Pediatrics, Div. of Pediatric Neurology, New York Presbyterian Hospital, Lab. of Molecular and Developmental ...)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 87  号： 5  ページ： 643-654  発行年： 2010年11月12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 (3件)： 突然変異 ,  後索運動失調 ,  網膜色素変性症