Guya. Giambonini-Brugnoli, et.al., Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation., Neurobiology of disease, 2005, 18

http://rdf.ncbi.nlm.nih.gov/pubmed/15755691

Guya. Giambonini-Brugnoli, et.al., Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation., Neurobiology of disease, 2005, 18

pubmed

表現型アノテーション

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

• increased Schwann cell proliferation_Pmp22<tm1Ueli>/Pmp22<tm1Ueli>
  http://metadb.riken.jp/0011906I129SSvEvC57BL6Pmp22tm1UeliPmp22tm1UeliPmp22tm1Ueli
• abnormal Schwann cell physiology_Pmp22<tm1Ueli>/Pmp22<tm1Ueli>
  http://metadb.riken.jp/0011904I129SSvEvC57BL6Pmp22tm1UeliPmp22tm1UeliPmp22tm1Ueli
• abnormal myelination_Pmp22<tm1Ueli>/Pmp22<tm1Ueli>
  http://metadb.riken.jp/0000920I129SSvEvC57BL6Pmp22tm1UeliPmp22tm1UeliPmp22tm1Ueli
• abnormal Schwann cell morphology_Pmp22<Tr>/?
  http://metadb.riken.jp/0001106ICBAPmp22TrPmp22Tr
• abnormal Schwann cell morphology_Tg(Pmp22)247Ueli/0
  http://metadb.riken.jp/0001106IC3HC57BL6TgPmp22247Ueli0TgPmp22247Ueli
• abnormal myelination_Tg(Pmp22)247Ueli/0
  http://metadb.riken.jp/0000920IC3HC57BL6TgPmp22247Ueli0TgPmp22247Ueli
• abnormal Schwann cell morphology_Pmp22<tm1Ueli>/Pmp22<tm1Ueli>
  http://metadb.riken.jp/0001106I129SSvEvC57BL6Pmp22tm1UeliPmp22tm1UeliPmp22tm1Ueli