J M. Gardner, et.al., The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome., Proceedings of the National Academy of Sciences of the United States of America, 1997, 94

http://rdf.ncbi.nlm.nih.gov/pubmed/9256466

J M. Gardner, et.al., The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome., Proceedings of the National Academy of Sciences of the United States of America, 1997, 94

pubmed

表現型アノテーション

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

• abnormal platelet physiology_Hps1<ep>/Hps1<ep>
  http://metadb.riken.jp/0005464IC3HeBFeJC57BL6JHps1epHps1epHps1ep
• decreased platelet dense granule number_Hps1<ep>/Hps1<ep>
  http://metadb.riken.jp/0020432IC3HeBFeJC57BL6JHps1epHps1epHps1ep
• abnormal choroid pigmentation_Hps1<ep>/Hps1<ep>
  http://metadb.riken.jp/0005100IC3HeBFeJC57BL6JHps1epHps1epHps1ep
• abnormal melanosome morphology_Hps1<ep>/Hps1<ep>
  http://metadb.riken.jp/0005075IC3HeBFeJC57BL6JHps1epHps1epHps1ep

表現型アノテーション

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

• decreased platelet dense granule number in RBRC00333
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1018753
• abnormal choroid pigmentation in RBRC00333
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1017089
• abnormal platelet dense granule number in RBRC00333
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1017085
• abnormal platelet physiology in RBRC00333
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1017094