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J-GLOBAL ID：201102261377589910   Reference number：11A1061002

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

RAB18における機能喪失性変異はWarburgミクロ症候群を引き起こす

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Author (30)： BEM Danai (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  YOSHIMURA Shin-ichiro (Cancer Res. Centre, Univ. of Liverpool, Liverpool L3 9TA, GBR) ,  NUNES-BASTOS Ricardo (Cancer Res. Centre, Univ. of Liverpool, Liverpool L3 9TA, GBR) ,  BOND Frances F. (West Midlands Regional Genetics Serv., Birmingham Women’s Hospital, Birmingham B15 2TG, GBR) ,  KURIAN Manju A. (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  RAHMAN Fatima (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  HANDLEY Mark T.W. (Medical and Developmental Genetics, Medical Res. Council Human Genetics Unit, Edinburgh EH4 2XU, GBR) ,  HADZHIEV Yavor (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  MASOOD Imran (Dep. of Cellular Pathology, Queen Elizabeth Hospital National Health Serv. Foundation Trust, Birmingham B15 2WB ...) ,  STRAATMAN-IWANOWSKA Ania A. (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  CULLINANE Andrew R. (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  MCNEILL Alisdair (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  MCNEILL Alisdair (West Midlands Regional Genetics Serv., Birmingham Women’s Hospital, Birmingham B15 2TG, GBR) ,  PASHA Shanaz S. (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  KIRBY Gail A. (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  FOSTER Katharine (Radiology Dep., Birmingham Children’s Hospital, Birmingham B4 6NH, GBR) ,  AHMED Zubair (Molecular Neuroscience Group, School of Clinical and Experimental Medicine, Univ. of Birmingham, Birmingham B15 2TT, GBR) ,  MORTON Jenny E. (West Midlands Regional Genetics Serv., Birmingham Women’s Hospital, Birmingham B15 2TG, GBR) ,  WILLIAMS Denise (West Midlands Regional Genetics Serv., Birmingham Women’s Hospital, Birmingham B15 2TG, GBR) ,  GRAHAM John M. (Clinical Genetics and Dysmorphology, Cedars Sinai Medical Centre, Los Angeles, CA 90048, USA) ,  DOBYNS William B. (Dep. of Human Genetics, Neurology and Pediatrics, Univ. of Chicago, Chicago, IL 60637, USA) ,  BURGLEN Lydie (Serv. de Genetique Medicale, Hopital d’Enfants Armand-Trousseau, 75571 Paris, FRA) ,  AINSWORTH John R. (Dep. of Paediatric Ophthalmology, Birmingham Children’s Hospital, Birmingham B4 6NH, GBR) ,  GISSEN Paul (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  MUELLER Ferenc (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  MAHER Eamonn R. (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  MAHER Eamonn R. (West Midlands Regional Genetics Serv., Birmingham Women’s Hospital, Birmingham B15 2TG, GBR) ,  BARR Francis A. (Cancer Res. Centre, Univ. of Liverpool, Liverpool L3 9TA, GBR) ,  ALIGIANIS Irene A. (Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and ...) ,  ALIGIANIS Irene A. (West Midlands Regional Genetics Serv., Birmingham Women’s Hospital, Birmingham B15 2TG, GBR)
Material： American Journal of Human Genetics  (AJHG)
Volume： 88  Issue： 4  Page： 499-507  Publication year： Apr. 08, 2011 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (2)： 変異 ,  症候群