Article
The region coding for the helix termination motif and the adjacent intron 6 of the human type I hair keratin gene hHa2 contains three natural, closely spaced polymorphic sites.
The Journal of investigative dermatology - 1 Mar 1996
Winter H, Rogers M A, Mahr B, Cremer M, Krieg T, Navsaria H A, Leigh I M, Schweizer J
Abstract excerpt
Mutations in distinct sites of epidermal keratins, in particular in the helix initiation and termination regions, cause human genodermatoses due to faulty intermediate filament formation. Extension of this observation to human hereditary hair and nail diseases includes population analyses of huma...
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