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Article

The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.

Bone - 1 Jul 2015

Al-Jallad Hadil, Palomo Telma, Roughley Peter, Glorieux Francis H, McKee Marc D, Moffatt Pierre, Rauch Frank

Abstract excerpt

Osteogenesis imperfecta type VI is caused by mutations in SERPINF1, which codes for pigment-epithelium derived factor (PEDF). Most of the reported SERPINF1 mutations lead to premature termination codons, but three in-frame insertion or deletion mutations have also been reported. It is not clear h...

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Source

Identifiers

PMID: 25868797
DOI: 10.1016/j.bone.2015.04.008

Genes

SERPINF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25868797-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.PMID 25868797Read ↗

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Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.Semantic proximity Read ↗

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.Semantic proximity Read ↗

Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.Semantic proximity Read ↗

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.Semantic proximity Read ↗

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.Semantic proximity Read ↗

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