Art

J-GLOBAL ID：201302238184232961   Reference number：13A1459504

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

自閉症,統合失調症および発作のリスクにシナプスオーガナイザーゲフィリン(GPHN)を含める稀なエキソン欠失

Author (40)： LIONEL Anath C. (Hospital for Sick Children, ON, CAN) ,  LIONEL Anath C. (Univ. of Toronto, ON, CAN) ,  VAAGS Andrea K. (Hospital for Sick Children, ON, CAN) ,  SATO Daisuke (Hospital for Sick Children, ON, CAN) ,  GAZZELLONE Matthew J. (Hospital for Sick Children, ON, CAN) ,  GAZZELLONE Matthew J. (Univ. of Toronto, ON, CAN) ,  MITCHELL Elyse B. (Mayo Clinic, MN, USA) ,  CHEN Hong Yang (Hospital for Sick Children, ON, CAN) ,  COSTAIN Gregory (Centre for Addiction and Mental Health, ON, CAN) ,  WALKER Susan (Hospital for Sick Children, ON, CAN) ,  EGGER Gerald (Centre for Addiction and Mental Health, ON, CAN) ,  EGGER Gerald (Medical Univ. of Graz, Graz, AUT) ,  THIRUVAHINDRAPURAM Bhooma (Hospital for Sick Children, ON, CAN) ,  MERICO Daniele (Hospital for Sick Children, ON, CAN) ,  PRASAD Aparna (Hospital for Sick Children, ON, CAN) ,  ANAGNOSTOU Evdokia (Univ. of Toronto, ON, CAN) ,  FOMBONNE Eric (Montreal Children’s Hospital) ,  FOMBONNE Eric (McGill Univ., QC, CAN) ,  ZWAIGENBAUM Lonnie (Univ. of Alberta, AB, CAN) ,  ROBERTS Wendy (Hospital for Sick Children, ON, CAN) ,  SZATMARI Peter (McMaster Univ., ON, CAN) ,  FERNANDEZ Bridget A. (Memorial Univ. of Newfoundland, NL, CAN) ,  GEORGIEVA Lyudmila (Cardiff Univ., Cardiff, GBR) ,  BRZUSTOWICZ Linda M. (Rutgers Univ., NJ, USA) ,  ROETZER Katharina (Medical Univ. of Graz, Graz, AUT) ,  KASCHNITZ Wolfgang (Medical Univ. of Graz, Graz, AUT) ,  VINCENT John B. (Centre for Addiction and Mental Health, ON, CAN) ,  VINCENT John B. (UMDNJ-New Jersey Medical School, NJ, USA) ,  WINDPASSINGER Christian (Medical Univ. of Graz, Graz, AUT) ,  MARSHALL Christian R. (Hospital for Sick Children, ON, CAN) ,  MARSHALL Christian R. (Univ. of Toronto, ON, CAN) ,  TRIFILETTI Rosario R. (UMDNJ-New Jersey Medical School, NJ, USA) ,  KIRMANI Salman (Mayo Clinic, MN, USA) ,  KIROV George (Cardiff Univ., Cardiff, GBR) ,  PETEK Erwin (Medical Univ. of Graz, Graz, AUT) ,  HODGE Jennelle C. (Mayo Clinic, MN, USA) ,  BASSETT Anne S. (Univ. of Toronto, ON, CAN) ,  BASSETT Anne S. (Centre for Addiction and Mental Health, ON, CAN) ,  SCHERER Stephen W. (Hospital for Sick Children, ON, CAN) ,  SCHERER Stephen W. (Univ. of Toronto, ON, CAN)
Material： Human Molecular Genetics  (Hum Mol Genet)
Volume： 22  Issue： 10  Page： 2055-2066  Publication year： May. 15, 2013 
JST Material Number： W0445A  ISSN： 0964-6906  CODEN： HMGEE5  Document type： Article
Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Terms in the title (6)： 自閉症 ,  統合失調症 ,  発作 ,  リスク ,  エキソン ,  欠失