期刊
JOURNAL OF BONE AND MINERAL RESEARCH
卷 20, 期 2, 页码 227-231出版社
WILEY
DOI: 10.1359/JBMR.041106
关键词
Paget's disease of bone; genetic; SQSTM1; haplotype; founder effect
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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