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Identification of gene mutation in patients with osteogenesis imperfect using high resolution melting analysis

26 Aug 2015

Abstract excerpt

Osteogenesis imperfecta (OI), a congenital bone disorder, is caused by mutations in COL1A1 and COL1A2 genes, leading to deficiency of type I collagen. The high resolution melting (HRM) analysis has been used for detecting mutations, polymorphisms and epigenetic alteration in double-stranded DNAs. This study was to evaluate the potential application of HRM analysis for identifying gene mutations in patients with...

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PMID: 26307460
DOI: 10.1038/srep13468

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