Open AccessHereditary nodo-paranodopathies: genomic variants, not just autoantibodies, hit the protein
Author(s) -
Mert Karakaya,
Brunhilde Wirth
Publication year - 2019
Publication title -
brain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/awz273
Subject(s) - mutation , autoantibody , genetics , neuroscience , medicine , biology , gene , antibody
The scientific commentary refers to ‘Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination’, by Efthymiou et al. (doi:10.1093/brain/awz248).
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