Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

    January 2017 in “ Journal of Investigative Dermatology ”
    John Y.W. Lee, Lu Liu, Chao‐Kai Hsu … John A. McGrath
    Studysummary This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
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    1. Keratins and Skin Disease: Genetic and Molecular Roles Cell & tissue research/Cell and tissue research · 2015

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