Gen. Tamiya, et.al., A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease., American journal of human genetics, 2014, 95

http://rdf.ncbi.nlm.nih.gov/pubmed/25152455

Gen. Tamiya, et.al., A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease., American journal of human genetics, 2014, 95

pubmed

表現型アノテーション

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

• abnormal sciatic nerve morphology_Cox6a1<tm1(KOMP)Wtsi>/Cox6a1<tm1(KOMP)Wtsi>
  http://metadb.riken.jp/0002651IC57BL6JJclC57BL6NCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsi
• abnormal liver physiology_Cox6a1<tm1(KOMP)Wtsi>/Cox6a1<tm1(KOMP)Wtsi>
  http://metadb.riken.jp/0000609IC57BL6JJclC57BL6NCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsi
• abnormal nerve conduction_Cox6a1<tm1(KOMP)Wtsi>/Cox6a1<tm1(KOMP)Wtsi>
  http://metadb.riken.jp/0005403IC57BL6JJclC57BL6NCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsi
• abnormal muscle morphology_Cox6a1<tm1(KOMP)Wtsi>/Cox6a1<tm1(KOMP)Wtsi>
  http://metadb.riken.jp/0002108IC57BL6JJclC57BL6NCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsi
• impaired coordination_Cox6a1<tm1(KOMP)Wtsi>/Cox6a1<tm1(KOMP)Wtsi>
  http://metadb.riken.jp/0001405IC57BL6JJclC57BL6NCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsi
• muscular atrophy_Cox6a1<tm1(KOMP)Wtsi>/Cox6a1<tm1(KOMP)Wtsi>
  http://metadb.riken.jp/0002269IC57BL6JJclC57BL6NCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsi
• abnormal motor coordination/ balance_Cox6a1<tm1(KOMP)Wtsi>/Cox6a1<tm1(KOMP)Wtsi>
  http://metadb.riken.jp/0001516IC57BL6JJclC57BL6NCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsi