Ubiquitin-Associated Domain Mutations of SQSTM1 in Paget's Disease of Bone : Evidence for a Founder Effect in Patients of British Descent

G.J.A. Lucas, L.J. Hocking, A. Daroszewska, T. Cundy, G.C. Nicholson, John Walsh, W.D. Fraser, C. Meier, M.J. Hooper, S.H. Ralston

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    40 Citations (Scopus)

    Abstract

    Mutations in the UBA domain of SQSTM1 are a common cause of Paget's disease of bone. Here we show that the most common disease-causing mutation (P392L) is carried on a shared haplotype, consistent with a founder effect and a common ancestral origin.
    Original languageEnglish
    Pages (from-to)227-231
    JournalJournal of Bone and Mineral Research
    Volume20
    Issue number2
    DOIs
    Publication statusPublished - 2005

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