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...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2021
Konular:
Original Articles
Online Erişim: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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