Daniel P. Judge, et.al., Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome., The Journal of clinical investigation, 2004, 114

http://rdf.ncbi.nlm.nih.gov/pubmed/15254584

Daniel P. Judge, et.al., Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome., The Journal of clinical investigation, 2004, 114

pubmed

allele

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

• Tg(FBN1)4A10Hcd
  http://metadb.riken.jp/db/mgi_rdf/MGI:4820738
• Tg(FBN1*C1663R)F2Hcd
  http://metadb.riken.jp/db/mgi_rdf/MGI:4820739
• Fbn1<tm1Hcd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3690325

表現型アノテーション

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

• kyphosis_Fbn1<tm1Hcd>/Fbn1<+>
  http://metadb.riken.jp/0000160I129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Fbn1tm1HcdFbn1
• postnatal lethality, complete penetrance_Fbn1<tm1Hcd>/Fbn1<tm1Hcd>
  http://metadb.riken.jp/0011085I129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1tm1HcdFbn1tm1Hcd
• abnormal aorta elastic fiber morphology_Fbn1<tm1Hcd>/Fbn1<+>
  http://metadb.riken.jp/0003211I129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Fbn1tm1HcdFbn1
• abnormal skeleton morphology_Fbn1<tm1Hcd>/Fbn1<+>
  http://metadb.riken.jp/0005508I129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Fbn1tm1HcdFbn1
• abnormal blood vessel morphology_Fbn1<tm1Hcd>/Fbn1<tm1Hcd>
  http://metadb.riken.jp/0001614I129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1tm1HcdFbn1tm1Hcd
• abnormal aorta wall morphology_Fbn1<tm1Hcd>/Fbn1<+>
  http://metadb.riken.jp/0009866I129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Fbn1tm1HcdFbn1
• abnormal rib morphology_Fbn1<tm1Hcd>/Fbn1<+>
  http://metadb.riken.jp/0000150I129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Fbn1tm1HcdFbn1
• overexpanded pulmonary alveoli_Fbn1<tm1Hcd>/Fbn1<+>
  http://metadb.riken.jp/0001183I129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Fbn1tm1HcdFbn1

class

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

• Tg(FBN1)4A10Hcd
  http://metadb.riken.jp/db/mgi_rdf/MGI:4820738
• Tg(FBN1*C1663R)F2Hcd
  http://metadb.riken.jp/db/mgi_rdf/MGI:4820739
• Fbn1<tm1Hcd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3690325