Art

J-GLOBAL ID：201302206229028105   Reference number：13A1338400

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

髄質性嚢胞腎に関連する繊毛関連疾患を有する1,056名の全世界的な患者集団における99の新たな突然変異の識別

Author (12)： HALBRITTER Jan (Univ. of Michigan Health System, Dep. of Pediatrics, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann ...) ,  PORATH Jonathan D. (Univ. of Michigan Health System, Dep. of Pediatrics, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann ...) ,  DIAZ Katrina A. (Univ. of Michigan Health System, Dep. of Pediatrics, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann ...) ,  BRAUN Daniela A. (Univ. of Michigan Health System, Dep. of Pediatrics, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann ...) ,  KOHL Stefan (Univ. of Michigan Health System, Dep. of Pediatrics, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann ...) ,  CHAKI Moumita (Univ. of Michigan Health System, Dep. of Pediatrics, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann ...) ,  ALLEN Susan J. (Univ. of Michigan Health System, Dep. of Pediatrics, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann ...) ,  SOLIMAN Neveen A. (Cairo Univ., Center of Pediatric Nephrology and Transplantation, Cairo, Egypt) ,  SOLIMAN Neveen A. (Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt) ,  HILDEBRANDT Friedhelm (Univ. of Michigan Health System, Dep. of Pediatrics, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann ...) ,  HILDEBRANDT Friedhelm (Howard Hughes Medical Inst., Chevy Chase, MD, USA) ,  OTTO Edgar A. (Univ. of Michigan Health System, Dep. of Pediatrics, 8220A MSRB III, 1150 West Medical Center Drive, 48109-5646, Ann ...)
Material： Human Genetics
Volume： 132  Issue： 8  Page： 865-884  Publication year： Aug. 2013 
JST Material Number： E0781B  ISSN： 0340-6717  CODEN： HUGEDQ  Document type： Article
Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Terms in the title (7)： 髄質性嚢胞腎 ,  繊毛関連疾患 ,  世界 ,  患者 ,  集団 ,  突然変異 ,  識別