載入...

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

Myelination is a complex, developmentally regulated process whereby myelin proteins and lipids are coordinately expressed by myelinating glial cells. Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revea...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Edvardson, Simon, Hama, Hiroko, Shaag, Avraham, Gomori, John Moshe, Berger, Itai, Soffer, Dov, Korman, Stanley H., Taustein, Ilana, Saada, Ann, Elpeleg, Orly
格式: Artigo
語言:Inglês
出版: Elsevier 2008
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668027/
https://ncbi.nlm.nih.gov/pubmed/19068277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.10.010
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!