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 journalLetter

    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

    Cite this

    Sathishkumar, D., Orrin, E., Terron-Kwiatkowski, A., Browne, F., Martinez, A. E., Mellerio, J. E., Ogboli, M., Hoey, S., Ozoemena, L., Liu, L., Baty, D., McGrath, J. A., & Moss, C. (2016). The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex. Journal of Investigative Dermatology, 136(3), 719-721. https://doi.org/10.1016/j.jid.2015.11.024