A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta

Approximately 90% of patients with osteogenesis imperfecta (OI) exhibit dominant COL1A1 or COL1A2 mutations; however, molecular analysis is difficult because these genes span 51 and 52 exons, respectively. We devised a PCR-denaturing high-performance liquid chromatography (DHPLC) procedure to analyz...

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Hauptverfasser: Fuccio, Antonella, Iorio, Mariangela, Amato, Felice, Elce, Ausilia, Ingino, Rosaria, Filocamo, Mirella, Castaldo, Giuseppe, Salvatore, Francesco, Tomaiuolo, Rossella
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Investigative Pathology 2011
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Regular Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3194059/
https://ncbi.nlm.nih.gov/pubmed/21884818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2011.06.006
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