Art

J-GLOBAL ID：201202263089397314   Reference number：12A1582023

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

エクソームシーケンシングはダイアモンド-ブラックファン貧血を生じるGATA1変異を特定

Author (24)： SANKARAN Vijay G. (Broad Inst., Massachusetts, USA) ,  SANKARAN Vijay G. (Whitehead Inst. for Biomedical Res., Massachusetts, USA) ,  SANKARAN Vijay G. (Children’s Hospital Boston, Massachusetts, USA) ,  SANKARAN Vijay G. (Harvard Medical School, Massachusetts, USA) ,  GHAZVINIAN Roxanne (Children’s Hospital Boston, Massachusetts, USA) ,  DO Ron (Broad Inst., Massachusetts, USA) ,  THIRU Prathapan (Whitehead Inst. for Biomedical Res., Massachusetts, USA) ,  VERGILIO Jo-Anne (Children’s Hospital Boston, Massachusetts, USA) ,  BEGGS Alan H. (Children’s Hospital Boston, Massachusetts, USA) ,  BEGGS Alan H. (Harvard Medical School, Massachusetts, USA) ,  SIEFF Colin A. (Children’s Hospital Boston, Massachusetts, USA) ,  SIEFF Colin A. (Harvard Medical School, Massachusetts, USA) ,  SIEFF Colin A. (Dana-Farber Cancer Inst., Massachusetts, USA) ,  ORKIN Stuart H. (Children’s Hospital Boston, Massachusetts, USA) ,  ORKIN Stuart H. (Harvard Medical School, Massachusetts, USA) ,  ORKIN Stuart H. (Dana-Farber Cancer Inst., Massachusetts, USA) ,  NATHAN David G. (Children’s Hospital Boston, Massachusetts, USA) ,  NATHAN David G. (Harvard Medical School, Massachusetts, USA) ,  NATHAN David G. (Dana-Farber Cancer Inst., Massachusetts, USA) ,  LANDER Eric S. (Broad Inst., Massachusetts, USA) ,  LANDER Eric S. (Harvard Medical School, Massachusetts, USA) ,  LANDER Eric S. (Massachusetts Inst. of Technol., Massachusetts, USA) ,  GAZDA Hanna T. (Children’s Hospital Boston, Massachusetts, USA) ,  GAZDA Hanna T. (Harvard Medical School, Massachusetts, USA)
Material： Journal of Clinical Investigation  (JCI)
Volume： 122  Issue： 7  Page： 2439-2443  Publication year： Jul. 2012 
JST Material Number： B0520B  ISSN： 0021-9738  Document type： Article
Country of issue： United States (USA)  Language： ENGLISH (EN)

Terms in the title (7)： エクソームシーケンシング ,  ダイアモンド ,  ブラック ,  ファン ,  貧血 ,  GATA1 ,  変異