Wei. Li, et.al., Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)., Nature genetics, 2003, 35

http://rdf.ncbi.nlm.nih.gov/pubmed/12923531

Wei. Li, et.al., Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)., Nature genetics, 2003, 35

pubmed

表現型アノテーション

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

• abnormal platelet physiology_Dtnbp1<sdy>/Dtnbp1<sdy>
  http://metadb.riken.jp/0005464IDBA2JDtnbp1sdyDtnbp1sdyDtnbp1sdy
• abnormal retinal pigment epithelium morphology_Dtnbp1<sdy>/Dtnbp1<sdy>
  http://metadb.riken.jp/0005201IDBA2JDtnbp1sdyDtnbp1sdyDtnbp1sdy
• abnormal optic choroid morphology_Dtnbp1<sdy>/Dtnbp1<sdy>
  http://metadb.riken.jp/0005098IDBA2JDtnbp1sdyDtnbp1sdyDtnbp1sdy
• abnormal choroid melanin granule morphology_Dtnbp1<sdy>/Dtnbp1<sdy>
  http://metadb.riken.jp/0010193IDBA2JDtnbp1sdyDtnbp1sdyDtnbp1sdy
• decreased platelet aggregation_Dtnbp1<sdy>/Dtnbp1<sdy>
  http://metadb.riken.jp/0009549IDBA2JDtnbp1sdyDtnbp1sdyDtnbp1sdy
• decreased platelet serotonin level_Dtnbp1<sdy>/Dtnbp1<sdy>
  http://metadb.riken.jp/0004725IDBA2JDtnbp1sdyDtnbp1sdyDtnbp1sdy