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...

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Detalhes bibliográficos
Main Authors: Edvardson, Simon, Hama, Hiroko, Shaag, Avraham, Gomori, John Moshe, Berger, Itai, Soffer, Dov, Korman, Stanley H., Taustein, Ilana, Saada, Ann, Elpeleg, Orly
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
Assuntos:
Report
Acesso em linha: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
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