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Article

A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.

The Journal of molecular diagnostics : JMD - 1 Nov 2011

Fuccio Antonella, Iorio Mariangela, Amato Felice, Elce Ausilia, Ingino Rosaria, Filocamo Mirella, Castaldo Giuseppe, Salvatore Francesco, Tomaiuolo Rossella

Abstract excerpt

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 analyze the COL1A1 or COL1A2 coding regions and validated it using 130 DNA samples from individuals without OI, 25 DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21884818
DOI: 10.1016/j.jmoldx.2011.06.006
PMCID: PMC3194059

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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