Hitoshi. Uchinoumi, et.al., Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor., Circulation research, 2010, 106

http://rdf.ncbi.nlm.nih.gov/pubmed/20224043

Hitoshi. Uchinoumi, et.al., Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor., Circulation research, 2010, 106

pubmed

allele

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

• Ryr2<tm1Maya>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4443127
• Ryr2<tm1.1Maya>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4442645

class

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

• Ryr2<tm1Maya>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4443127
• Ryr2<tm1.1Maya>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4442645

表現型アノテーション

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

• increased physiological sensitivity to xenobiotic_Ryr2<tm1.1Maya>/Ryr2<+>
  http://metadb.riken.jp/0008873C57BL6JRyr2tm11MayaRyr2tm11MayaRyr2Ryr2Ryr2tm11Maya
• abnormal myocardial fiber physiology_Ryr2<tm1.1Maya>/Ryr2<+>
  http://metadb.riken.jp/0004215C57BL6JRyr2tm11MayaRyr2tm11MayaRyr2Ryr2Ryr2tm11Maya
• ventricular tachycardia_Ryr2<tm1.1Maya>/Ryr2<+>
  http://metadb.riken.jp/0008950C57BL6JRyr2tm11MayaRyr2tm11MayaRyr2Ryr2Ryr2tm11Maya