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A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family

BACKGROUND: Osteogenesis imperfecta (OI), a rare autosomal inheritable disorder characterized by bone fragility and skeletal deformity, is caused by pathogenic variants in genes impairing the synthesis and processing of extracellular matrix protein collagen type I. With the use of next‐generation se...

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Detalles Bibliográficos
Autores principales:	Han, Yaxin, Wang, Dongming, Guo, Jinli, Xiong, Qiuhong, Li, Ping, Zhou, Yong‐An, Zhao, Bin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507304/ https://www.ncbi.nlm.nih.gov/pubmed/32588564 http://dx.doi.org/10.1002/mgg3.1366

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