Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change

Emoke Racz, Márta Csikós, Réka Benko, Zoltán Kornseé, Sarolta Kárpáti

    Research output: Contribution to journalArticleAcademicpeer-review

    12 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)231-234
    Number of pages4
    JournalJournal of dermatological science
    Volume38
    Issue number3
    DOIs
    Publication statusPublished - Jun-2005

    Keywords

    • Base Sequence
    • Calcium-Transporting ATPases/genetics
    • DNA, Complementary/genetics
    • Darier Disease/genetics
    • Female
    • Humans
    • Hungary
    • Introns
    • Male
    • Mutation
    • Mutation, Missense
    • Pedigree
    • RNA Splice Sites
    • Sarcoplasmic Reticulum Calcium-Transporting ATPases
    • Sequence Deletion

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