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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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Pubblicato in:PLoS One
Autori principali: Wang, Yao, Cui, Yazhou, Zhou, Xiaoyan, Han, Jinxiang
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4350936/
https://ncbi.nlm.nih.gov/pubmed/25742658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0119553
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