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

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.

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