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Article

A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect.

Bone - 1 Jan 2012

Venturi Giacomo, Monti Elena, Dalle Carbonare Luca, Corradi Massimiliano, Gandini Alberto, Valenti Maria Teresa, Boner Attilio, Antoniazzi Franco

Abstract excerpt

Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by bone fragility and osteopenia, with a broad spectrum of clinical severity. The majority of cases are dominantly inherited and due to mutations in type I collagen genes, whereas recessive forms are less frequent and attributable to mutations in different genes involved in collagen I post translational modifications and folding...

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Topics

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Share to Calcification, Physiologic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type I

Share to Collagen Type I, alpha 1 Chain

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Source

Identifiers

PMID: 22061863
DOI: 10.1016/j.bone.2011.10.023

Genes

FKBP10
SERPINH1

Provenance

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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A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect.PMID 22061863Read ↗

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Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta.Semantic proximity Read ↗

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