Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Eline M.C. Hamilton"'
Autor:
Eline M.C. Hamilton, Stephanie Nguyen, Chris de Graaf, Iwan J. P. de Esch, Christopher G. Proud, John B. Bruning, Lisanne E. Wisse, Marjo S. van der Knaap, Inna Slynko, Truus Em Abbink
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Molecular Genetics and Genomic Medicine, 9(3):e1593, 1-15. John Wiley and Sons Inc.
Molecular Genetics and Genomic Medicine, 9(3):e1593. John Wiley and Sons Inc.
Slynko, I, Nguyen, S, Hamilton, E M C, Wisse, L E, de Esch, I J P, de Graaf, C, Bruning, J B, Proud, C G, Abbink, T E M & van der Knaap, M S 2021, ' Vanishing white matter : Eukaryotic initiation factor 2B model and the impact of missense mutations ', Molecular Genetics and Genomic Medicine, vol. 9, no. 3, e1593, pp. 1-15 . https://doi.org/10.1002/mgg3.1593
Slynko, I, Nguyen, S, Hamilton, E M C, Wisse, L E, de Esch, I J P, de Graaf, C, Bruning, J B, Proud, C G, Abbink, T E M & van der Knaap, M S 2021, ' Vanishing white matter : Eukaryotic initiation factor 2B model and the impact of missense mutations ', Molecular Genetics and Genomic Medicine, vol. 9, no. 3, e1593 . https://doi.org/10.1002/mgg3.1593
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Molecular Genetics and Genomic Medicine, 9(3):e1593, 1-15. John Wiley and Sons Inc.
Molecular Genetics and Genomic Medicine, 9(3):e1593. John Wiley and Sons Inc.
Slynko, I, Nguyen, S, Hamilton, E M C, Wisse, L E, de Esch, I J P, de Graaf, C, Bruning, J B, Proud, C G, Abbink, T E M & van der Knaap, M S 2021, ' Vanishing white matter : Eukaryotic initiation factor 2B model and the impact of missense mutations ', Molecular Genetics and Genomic Medicine, vol. 9, no. 3, e1593, pp. 1-15 . https://doi.org/10.1002/mgg3.1593
Slynko, I, Nguyen, S, Hamilton, E M C, Wisse, L E, de Esch, I J P, de Graaf, C, Bruning, J B, Proud, C G, Abbink, T E M & van der Knaap, M S 2021, ' Vanishing white matter : Eukaryotic initiation factor 2B model and the impact of missense mutations ', Molecular Genetics and Genomic Medicine, vol. 9, no. 3, e1593 . https://doi.org/10.1002/mgg3.1593
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,