期刊
JOURNAL OF BONE AND MINERAL RESEARCH
卷 21, 期 -, 页码 P38-P44出版社
AMER SOC BONE & MINERAL RES
DOI: 10.1359/JBMR.06S207
关键词
Paget's disease of bone; sequestosome1/p62; genetics; phenotype; penetrance
Mutations of the SQSTM1/p62 gene are commonly observed in PDB. Screening an updated sample from Quebec and using previously published data from other populations, we compared frequency estimates for SQSTM1/p62 mutations and haplotype distribution. The P392L mutation was the most prevalent, embedded in two different haplotypes, possibly shared by other populations. We also examined the phenotype and penetrance of P392L.
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