Randy J. Chandler, et.al., Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle., BMC medical genetics, 2007, 8

http://rdf.ncbi.nlm.nih.gov/pubmed/17937813

Randy J. Chandler, et.al., Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle., BMC medical genetics, 2007, 8

pubmed

allele

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

• Mut<tm1Cpv>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3840300

表現型アノテーション

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

• abnormal brain morphology_Mut<tm1Cpv>/Mut<tm1Cpv>
  http://metadb.riken.jp/0002152NSMuttm1CpvMuttm1CpvMuttm1Cpv
• postnatal lethality, complete penetrance_Mut<tm1Cpv>/Mut<tm1Cpv>
  http://metadb.riken.jp/0011085NSMuttm1CpvMuttm1CpvMuttm1Cpv
• dehydration_Mut<tm1Cpv>/Mut<tm1Cpv>
  http://metadb.riken.jp/0001429NSMuttm1CpvMuttm1CpvMuttm1Cpv
• abnormal liver morphology_Mut<tm1Cpv>/Mut<tm1Cpv>
  http://metadb.riken.jp/0000598NSMuttm1CpvMuttm1CpvMuttm1Cpv
• lung hemorrhage_Mut<tm1Cpv>/Mut<tm1Cpv>
  http://metadb.riken.jp/0001182NSMuttm1CpvMuttm1CpvMuttm1Cpv
• abnormal blood homeostasis_Mut<tm1Cpv>/Mut<tm1Cpv>
  http://metadb.riken.jp/0009642NSMuttm1CpvMuttm1CpvMuttm1Cpv
• aciduria_Mut<tm1Cpv>/Mut<tm1Cpv>
  http://metadb.riken.jp/0010028NSMuttm1CpvMuttm1CpvMuttm1Cpv
• acidemia_Mut<tm1Cpv>/Mut<tm1Cpv>
  http://metadb.riken.jp/0003030NSMuttm1CpvMuttm1CpvMuttm1Cpv
• respiratory distress_Mut<tm1Cpv>/Mut<tm1Cpv>
  http://metadb.riken.jp/0001954NSMuttm1CpvMuttm1CpvMuttm1Cpv

class

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

• Mut<tm1Cpv>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3840300

トランスクリプトームデータ

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

• CD39313
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD39313