文献

J-GLOBAL ID：201302206229028105   整理番号：13A1338400

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

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

著者 (12件)： 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 ...)
資料名： Human Genetics  (Human Genetics)
巻： 132  号： 8  ページ： 865-884  発行年： 2013年08月 
JST資料番号： E0781B  ISSN： 0340-6717  CODEN： HUGEDQ  資料種別： 逐次刊行物 (A)
発行国： ドイツ (DEU)  言語： 英語 (EN)

タイトルに関連する用語 (7件)： 髄質性嚢胞腎 ,  繊毛関連疾患 ,  世界 ,  患者 ,  集団 ,  突然変異 ,  識別