Detlef. Bockenhauer, et.al., Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., The New England journal of medicine, 2009, 360

http://rdf.ncbi.nlm.nih.gov/pubmed/19420365

Detlef. Bockenhauer, et.al., Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., The New England journal of medicine, 2009, 360

pubmed

表現型アノテーション

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

• decreased urine creatinine level_Kcnj10<tm1Lst>/Kcnj10<tm1Lst>
  http://metadb.riken.jp/0011471I129S1SvKcnj10tm1LstKcnj10tm1LstKcnj10tm1Lst
• abnormal renal tubule morphology_Kcnj10<tm1Lst>/Kcnj10<tm1Lst>
  http://metadb.riken.jp/0002703I129S1SvKcnj10tm1LstKcnj10tm1LstKcnj10tm1Lst
• polyuria_Kcnj10<tm1Lst>/Kcnj10<tm1Lst>
  http://metadb.riken.jp/0001762I129S1SvKcnj10tm1LstKcnj10tm1LstKcnj10tm1Lst
• postnatal growth retardation_Kcnj10<tm1Lst>/Kcnj10<tm1Lst>
  http://metadb.riken.jp/0001732I129S1SvKcnj10tm1LstKcnj10tm1LstKcnj10tm1Lst
• decreased urine calcium level_Kcnj10<tm1Lst>/Kcnj10<tm1Lst>
  http://metadb.riken.jp/0002986I129S1SvKcnj10tm1LstKcnj10tm1LstKcnj10tm1Lst
• postnatal lethality, complete penetrance_Kcnj10<tm1Lst>/Kcnj10<tm1Lst>
  http://metadb.riken.jp/0011085I129S1SvKcnj10tm1LstKcnj10tm1LstKcnj10tm1Lst
• increased urine sodium level_Kcnj10<tm1Lst>/Kcnj10<tm1Lst>
  http://metadb.riken.jp/0006316I129S1SvKcnj10tm1LstKcnj10tm1LstKcnj10tm1Lst