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Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease

Osteogenesis imperfecta (OI), mainly caused by structural abnormalities of type I collagen, is a hereditary rare disease characterized by increased bone fragility and reduced bone mass. Clinical manifestations of OI mostly include multiple repeated bone fractures, thin skin, blue sclera, hearing los...

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Detalles Bibliográficos
Autores principales: Shi, Jingru, Ren, Meng, Jia, Jinmeng, Tang, Muxue, Guo, Yongli, Ni, Xin, Shi, Tieliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6803541/
https://www.ncbi.nlm.nih.gov/pubmed/31680973
http://dx.doi.org/10.3389/fphar.2019.01200