A Spontaneous Fatp4/Slc27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis

    November 2012 in “ PLoS ONE
    Jianning Tao, Maranke I. Koster, Wilbur R. Harrison, Jennifer L. Moran, David R. Beier, Dennis R. Roop, Paul A. Overbeek
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    Studysummary This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
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