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Article

Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.

PloS one - 1 Jan 2015

Wang Yao, Cui Yazhou, Zhou Xiaoyan, Han Jinxiang

Abstract excerpt

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, thus creating a great demand for precise genetic tests. However, large genome sizes make the process daunting and the...

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Identifiers

PMID: 25742658
DOI: 10.1371/journal.pone.0119553
PMCID: PMC4350936

Genes

CRTAP
FKBP10

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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