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Article

[Genetic mutation and clinical features of osteogenesis imperfecta type V].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2017

Guan Shizhen, Bai Xue, Wang Yi, Liu Zhigang, Ren Xiuzhi, Zhang Tianke, Ju Mingyan, Li Keqiu, Li Guang

Abstract excerpt

OBJECTIVE: To explore genetic mutations and clinical features of osteogenesis imperfecta type V. METHODS: Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected. Mutation of IFITM5 gene was identified by PCR amplification and Sanger...

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Identifiers

PMID: 29188603
DOI: 10.3760/cma.j.issn.1003-9406.2017.06.003

Genes

IFITM5

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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