Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix

    Eli Sprecher, Christopher J. Miller, Gabriele Richard, Akemi Ishida‐Yamamoto, Oren M. Becker, Lyuben N. Marekov, Peter M. Steinert, Kenneth H. Neldner
    Studysummary This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
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