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Article

Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.

Calcified tissue international - 1 Jan 2017

Wang Jian-Yi, Liu Yi, Song Li-Jie, Lv Fang, Xu Xiao-Jie, San A, Wang Jian, Yang Huan-Ming, Yang Zi-Ying, Jiang Yan, Wang Ou, Xia Wei-Bo, Xing Xiao-Ping, Li Mei

Abstract excerpt

Osteogenesis imperfecta (OI) is a group of inherited disorders characterized by recurrent fragile fractures. Serpin peptidase inhibitor, clade F, member 1 (SERPINF1) is known to cause a distinct, extremely rare autosomal recessive form of type VI OI. Here we report, for the first time, the detection of SERPINF1 mutations in Chinese OI patients. We designed a novel targeted next-generation sequencing panel of...

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Identifiers

PMID: 27796462
DOI: 10.1007/s00223-016-0201-z

Genes

SERPINF1

Variants

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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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Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.PMID 27796462Read ↗

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