Christine P. Diggle, et.al., Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy., American journal of human genetics, 2016, 98

http://rdf.ncbi.nlm.nih.gov/pubmed/27058446

Christine P. Diggle, et.al., Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy., American journal of human genetics, 2016, 98

pubmed

allele

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

• Pde10a<tm1.1Njbr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5823061

表現型アノテーション

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

• abnormal motor coordination/ balance_Pde10a<tm1.1Njbr>/Pde10a<tm1.1Njbr>
  http://metadb.riken.jp/0001516IC57BL6Pde10atm11NjbrPde10atm11NjbrPde10atm11Njbr
• decreased vertical activity_Pde10a<tm1.1Njbr>/Pde10a<tm1.1Njbr>
  http://metadb.riken.jp/0002757IC57BL6Pde10atm11NjbrPde10atm11NjbrPde10atm11Njbr
• bradykinesia_Pde10a<tm1.1Njbr>/Pde10a<tm1.1Njbr>
  http://metadb.riken.jp/0005156IC57BL6Pde10atm11NjbrPde10atm11NjbrPde10atm11Njbr
• impaired balance_Pde10a<tm1.1Njbr>/Pde10a<tm1.1Njbr>
  http://metadb.riken.jp/0001525IC57BL6Pde10atm11NjbrPde10atm11NjbrPde10atm11Njbr
• impaired coordination_Pde10a<tm1.1Njbr>/Pde10a<tm1.1Njbr>
  http://metadb.riken.jp/0001405IC57BL6Pde10atm11NjbrPde10atm11NjbrPde10atm11Njbr

class

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

• Pde10a<tm1.1Njbr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5823061