Splice receptor-site mutation c.697-2A>G of the COL1A1 gene in a Chinese family with osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and blue sclerae, which are mainly caused by a mutation of the COL1A1 or COL1A2 genes that encode type I procollagen. Mutations in the splice site of type I collagen genes are one of the mutations that cause OI and us...

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Detalhes bibliográficos
Publicado no:Intractable Rare Dis Res
Main Authors: Zhai, Naixiang, Lu, Yanqin, Wang, Yanzhou, Zhang, Shie, Peng, Chuanming, Zhang, Shanshan, Li, Tianyou, Chen, Mei, Liu, Junlong, Fang, Fengling, Ren, Xiuzhi, Han, Jinxiang
Formato: Artigo
Idioma:Inglês
Publicado em: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6557241/
https://ncbi.nlm.nih.gov/pubmed/31218168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2019.01046
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