The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex

Dharshini Sathishkumar (Lead / Corresponding author), Elizabeth Orrin, Ana Terron-Kwiatkowski, Fiona Browne, Anna E. Martinez, Jemima E. Mellerio, Malobi Ogboli, Susannah Hoey, Linda Ozoemena, Lu Liu, David Baty, John A. McGrath, Celia Moss

    Research output: Contribution to journalLetterpeer-review

    9 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)719-721
    Number of pages3
    JournalJournal of Investigative Dermatology
    Volume136
    Issue number3
    Early online date30 Dec 2015
    DOIs
    Publication statusPublished - Mar 2016

    Keywords

    • Cause of death
    • Child, Preschool
    • DNA mutational analysis
    • Epidermolysis bullosa simplex
    • Female
    • Humans
    • Infant
    • Infant, Newborn
    • Keratin-14
    • Keratin-5
    • Male
    • Mutation, Missense
    • Prognosis
    • Sampling studies
    • Survival rate
    • Letter

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