Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations

BACKGROUND: Vanishing white matter (VWM) is a leukodystrophy, caused by recessive mutations in eukaryotic initiation factor 2B (eIF2B)‐subunit genes (EIF2B1–EIF2B5); 80% are missense mutations. Clinical severity is highly variable, with a strong, unexplained genotype–phenotype correlation. MATERIALS...

詳細記述

保存先:
書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: Slynko, Inna, Nguyen, Stephanie, Hamilton, Eline M. C., Wisse, Lisanne E., de Esch, Iwan J. P., de Graaf, Chris, Bruning, John B., Proud, Christopher G., Abbink, Truus E. M., van der Knaap, Marjo S.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2021
主題:
Original Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8104162/
https://ncbi.nlm.nih.gov/pubmed/33432707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1593
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