Development of a High-Throughput Resequencing Array for the Detection of Pathogenic Mutations in Osteogenesis Imperfecta

OBJECTIVE: Osteogenesis imperfecta (OI) is a rare inherited skeletal disease, characterized by bone fragility and low bone density. The mutations in this disorder have been widely reported to be on various exonal hotspots of the candidate genes, including COL1A1, COL1A2, CRTAP, LEPRE1, and FKBP10, t...

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Detalles Bibliográficos
Autores principales: Wang, Yao, Cui, Yazhou, Zhou, Xiaoyan, Han, Jinxiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350936/
https://www.ncbi.nlm.nih.gov/pubmed/25742658
http://dx.doi.org/10.1371/journal.pone.0119553

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