Nicolas. Grillet, et.al., Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans., American journal of human genetics, 2009, 85

http://rdf.ncbi.nlm.nih.gov/pubmed/19732867

Nicolas. Grillet, et.al., Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans., American journal of human genetics, 2009, 85

pubmed

表現型アノテーション

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

• cochlear ganglion degeneration_Loxhd1<sba>/Loxhd1<sba>
  http://metadb.riken.jp/0002857IC57BL6JLoxhd1sbaLoxhd1sbaLoxhd1sba
• cochlear hair cell degeneration_Loxhd1<sba>/Loxhd1<sba>
  http://metadb.riken.jp/0004362IC57BL6JLoxhd1sbaLoxhd1sbaLoxhd1sba
• abnormal cochlear hair cell morphology_Loxhd1<sba>/Loxhd1<sba>
  http://metadb.riken.jp/0002622IC57BL6JLoxhd1sbaLoxhd1sbaLoxhd1sba
• abnormal auditory brainstem response_Loxhd1<sba>/Loxhd1<sba>
  http://metadb.riken.jp/0004738IC57BL6JLoxhd1sbaLoxhd1sbaLoxhd1sba
• absent distortion product otoacoustic emissions_Loxhd1<sba>/Loxhd1<sba>
  http://metadb.riken.jp/0004737IC57BL6JLoxhd1sbaLoxhd1sbaLoxhd1sba