KEGG   DISEASE: H00874Help
エントリ  
H00874                                                             

名称    
Leukoencephalopathy with dystonia and motor neuropathy;
Leukoencephalopathy with dystonia and motor neuropathy
パスウェイ 
一次胆汁酸の生合成
PPAR シグナル伝達経路
ペルオキシソーム
病因遺伝子 
SCP2 [HSA:6342] [KO:K08764]
リンク   
ICD-10: 
MeSH: 
OMIM: 
文献    
PMID:16685654 (description, gene)
  著者
Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJ, Duran M, Marziniak M
  タイトル
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause  leukencephalopathy with dystonia and motor neuropathy.
  雑誌
Am J Hum Genet 78:1046-52 (2006)

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