Mark E. Lindsay, et.al., Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm., Nature genetics, 2012, 44

http://rdf.ncbi.nlm.nih.gov/pubmed/22772368

Mark E. Lindsay, et.al., Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm., Nature genetics, 2012, 44

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• abnormal aorta wall morphology_Fbn1<tm1Hcd>/Fbn1<+>
  http://metadb.riken.jp/0009866I129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Fbn1tm1HcdFbn1
• dilated aorta bulb_Fbn1<tm1Hcd>/Fbn1<+>,Tgfb2<tm1Doe>/Tgfb2<+>
  http://metadb.riken.jp/0011575I129P2OlaHsd129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Tgfb2tm1DoeTgfb2Tgfb2Fbn1tm1HcdTgfb2tm1DoeFbn1
• dilated aorta bulb_Tgfb2<tm1Doe>/Tgfb2<+>
  http://metadb.riken.jp/0011575STOCKTgfb2tm1DoeJTgfb2tm1DoeTgfb2Tgfb2Tgfb2tm1Doe
• abnormal aorta wall morphology_Fbn1<tm1Hcd>/Fbn1<+>,Tgfb2<tm1Doe>/Tgfb2<+>
  http://metadb.riken.jp/0009866I129P2OlaHsd129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Tgfb2tm1DoeTgfb2Tgfb2Fbn1tm1HcdTgfb2tm1DoeFbn1
• aortic aneurysm_Tgfb2<tm1Doe>/Tgfb2<+>
  http://metadb.riken.jp/0006278STOCKTgfb2tm1DoeJTgfb2tm1DoeTgfb2Tgfb2Tgfb2tm1Doe
• aortic aneurysm_Fbn1<tm1Hcd>/Fbn1<+>,Tgfb2<tm1Doe>/Tgfb2<+>
  http://metadb.riken.jp/0006278I129P2OlaHsd129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Tgfb2tm1DoeTgfb2Tgfb2Fbn1tm1HcdTgfb2tm1DoeFbn1
• abnormal aorta wall morphology_Tgfb2<tm1Doe>/Tgfb2<+>
  http://metadb.riken.jp/0009866STOCKTgfb2tm1DoeJTgfb2tm1DoeTgfb2Tgfb2Tgfb2tm1Doe