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Article

Mutations in SERPINF1 cause osteogenesis imperfecta type VI.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2011

Homan Erica P, Rauch Frank, Grafe Ingo, Lietman Caressa, Doll Jennifer A, Dawson Brian, Bertin Terry, Napierala Dobrawa, Morello Roy, Gibbs Richard, White Lisa, Miki Rika, Cohn Daniel H, Crawford Susan, Travers Rose, Glorieux Francis H, Lee Brendan

Abstract excerpt

Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and/or structure of type I procollagen or by recessively inherited mutations in genes responsible for the posttranslational processing/trafficking of type I procollagen. Recessive OI type VI is unique among OI types in that it is characterized by an increased...

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Identifiers

PMID: 21826736
DOI: 10.1002/jbmr.487
PMCID: PMC3214246

Genes

SERPINF1

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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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