eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs

Leukoencephalopathy with vanishing white matter, also called “childhood ataxia with central nervous system hypomyelination,” is the first human disease related to mutations in any of the five genes encoding subunits of eukaryotic initiation factor eIF2B or any translation factor at all. eIF2B is ess...

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Auteurs principaux: van der Knaap, Marjo S., van Berkel, Carola G. M., Herms, Jochen, van Coster, Rudy, Baethmann, Martina, Naidu, Sakkubai, Boltshauser, Eugen, Willemsen, Michèl A. A. P., Plecko, Barbara, Hoffmann, Georg F., Proud, Christopher G., Scheper, Gert C., Pronk, Jan C.
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2003
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180499/
https://ncbi.nlm.nih.gov/pubmed/14566705
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