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J-GLOBAL ID：200902214186645296   整理番号：07A0790187

多リガンド受容体であるメガリンをコードするLRP2の突然変異はDonnai-Barrow症候群およびfacio-oculo-acoustico-renal症候群を引き起こす

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

著者 (32件)： KANTARCI Sibel (Massachusetts General Hospital, Massachusetts, USA) ,  KANTARCI Sibel (Harvard Medical School, Massachusetts, USA) ,  AL-GAZALI Lihadh (United Arab Emirates Univ., Al Ain, ARE) ,  HILL R Sean (Beth Israel Deaconess Medical Center, Massachusetts, USA) ,  HILL R Sean (Harvard Medical School, Massachusetts, USA) ,  DONNAI Dian (Univ. Manchester, Manchester, GBR) ,  BLACK Graeme C M (Univ. Manchester, Manchester, GBR) ,  BIETH Eric ,  CHASSAING Nicolas (CHU de Bordeaux, Bordeaux, FRA) ,  LACOMBE Didier (CHU de Bordeaux, Bordeaux, FRA) ,  DEVRIENDT Koen (Univ. Leuven, Leuven, BEL) ,  TEEBI Ahmad (Weill Cornell Medical Coll. in Qatar, Doha, QAT) ,  LOSCERTALES Maria (Massachusetts General Hospital, Massachusetts, USA) ,  LOSCERTALES Maria (Harvard Medical School, Massachusetts, USA) ,  ROBSON Caroline (Harvard Medical School, Massachusetts, USA) ,  ROBSON Caroline (Children’s Hospital, Massachusetts, USA) ,  LIU Tianming (Harvard Medical School, Massachusetts, USA) ,  LIU Tianming (Brigham and Women’s Hospital, Massachusetts, USA) ,  MACLAUGHLIN David T (Massachusetts General Hospital, Massachusetts, USA) ,  MACLAUGHLIN David T (Harvard Medical School, Massachusetts, USA) ,  NOONAN Kristin M (Massachusetts General Hospital, Massachusetts, USA) ,  NOONAN Kristin M (Harvard Medical School, Massachusetts, USA) ,  RUSSELL Meaghan K (Massachusetts General Hospital, Massachusetts, USA) ,  WALSH Christopher A (Beth Israel Deaconess Medical Center, Massachusetts, USA) ,  WALSH Christopher A (Harvard Medical School, Massachusetts, USA) ,  WALSH Christopher A (Children’s Hospital, Massachusetts, USA) ,  DONAHOE Patricia K (Massachusetts General Hospital, Massachusetts, USA) ,  DONAHOE Patricia K (Harvard Medical School, Massachusetts, USA) ,  POBER Barbara R (Massachusetts General Hospital, Massachusetts, USA) ,  POBER Barbara R (Harvard Medical School, Massachusetts, USA) ,  POBER Barbara R (Children’s Hospital, Massachusetts, USA) ,  POBER Barbara R (MassGeneral Hospital for Children, Massachusetts, USA)
資料名： Nature Genetics  (Nature Genetics)
巻： 39  号： 8  ページ： 957-959  発行年： 2007年08月 
JST資料番号： W0430A  ISSN： 1061-4036  資料種別： 逐次刊行物 (A)
記事区分： 短報  発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

抄録/ポイント： Donnai-Barrow症候群は,脳梁欠損(ACC),先天...

シソーラス用語： 遺伝病 ,...
準シソーラス用語： Donnai-Barrow症候群 ,...

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分類 (1件)： 遺伝的変異  (EC01030Y)

タイトルに関連する用語 (6件)： リガンド ,  受容体 ,  メガリン ,  LRP2 ,  突然変異 ,  症候群