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Article

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

American journal of human genetics - 11 Mar 2011

Becker Jutta, Semler Oliver, Gilissen Christian, Li Yun, Bolz Hanno Jörn, Giunta Cecilia, Bergmann Carsten, Rohrbach Marianne, Koerber Friederike, Zimmermann Katharina, de Vries Petra, Wirth Brunhilde, Schoenau Eckhard, Wollnik Bernd, Veltman Joris A, Hoischen Alexander, Netzer Christian

Abstract excerpt

Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and susceptibility to fractures after minimal trauma. After mutations in all known OI genes had been excluded by Sanger sequencing, we applied next-generation sequencing to analyze the exome of a single individual who has a severe form of the disease and whose parents are second cousins. A total of 26,922 variations...

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Identifiers

PMID: 21353196
DOI: 10.1016/j.ajhg.2011.01.015
PMCID: PMC3059418

Genes

SERPINF1

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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