Heterozygous loss-of-function mutations in the AAGAB gene cause punctate palmoplantar keratoderma type 1 and impair receptor tyrosine kinase protein turnover

E. Pohler, C. Harkins, J. Salas, M. Zamiri, N. J. Wilson, F. J. Smith, S. J. Brown, I. McLean

    Research output: Contribution to journalMeeting abstract

    Original languageEnglish
    Article number863
    Pages (from-to)S146
    Number of pages1
    JournalJournal of Investigative Dermatology
    Volume133
    Issue numberS1
    DOIs
    Publication statusPublished - 2013
    EventInternational Investigative Dermatology Meeting - Edinburgh, United Kingdom
    Duration: 8 May 201311 May 2013
    http://www.iid2013.org/welcome/

    Cite this

    @article{0227fb3d908540b1a41a899c1f053d20,
    title = "Heterozygous loss-of-function mutations in the AAGAB gene cause punctate palmoplantar keratoderma type 1 and impair receptor tyrosine kinase protein turnover",
    author = "E. Pohler and C. Harkins and J. Salas and M. Zamiri and Wilson, {N. J.} and Smith, {F. J.} and Brown, {S. J.} and I. McLean",
    year = "2013",
    doi = "10.1038/jid.2013.100",
    language = "English",
    volume = "133",
    pages = "S146",
    journal = "Journal of Investigative Dermatology",
    issn = "0022-202X",
    publisher = "Nature Publishing Group",
    number = "S1",

    }

    TY - JOUR

    T1 - Heterozygous loss-of-function mutations in the AAGAB gene cause punctate palmoplantar keratoderma type 1 and impair receptor tyrosine kinase protein turnover

    AU - Pohler, E.

    AU - Harkins, C.

    AU - Salas, J.

    AU - Zamiri, M.

    AU - Wilson, N. J.

    AU - Smith, F. J.

    AU - Brown, S. J.

    AU - McLean, I.

    PY - 2013

    Y1 - 2013

    U2 - 10.1038/jid.2013.100

    DO - 10.1038/jid.2013.100

    M3 - Meeting abstract

    VL - 133

    SP - S146

    JO - Journal of Investigative Dermatology

    JF - Journal of Investigative Dermatology

    SN - 0022-202X

    IS - S1

    M1 - 863

    ER -