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

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. Th...

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Detalles Bibliográficos
Autores principales: Wang, Jianhai, Ren, Xiuzhi, Bai, Xue, Zhang, Tianke, Wang, Yi, Li, Keqiu, Li, Guang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549685/
https://www.ncbi.nlm.nih.gov/pubmed/26307460
http://dx.doi.org/10.1038/srep13468