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See Latest ArticlesMutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree
Journal of the European Academy of Dermatology and Venereology, 08/06/09
Liu XP et al. – Functional analysis shows that overexpression of the L437P mutant in cultured cells leads to abnormal intermediate filament networks and filament aggregation. This gain–of–function mutation highlights the role of domain 2B in mediating filament assembly.
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