Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system

BACKGROUND: Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen. This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large coho...

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Detalles Bibliográficos
Autores principales: Li, Lu-Jiao, Lyu, Fang, Song, Yu-Wen, Wang, Ou, Jiang, Yan, Xia, Wei-Bo, Xing, Xiao-Ping, Li, Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365277/
https://www.ncbi.nlm.nih.gov/pubmed/30614853
http://dx.doi.org/10.1097/CM9.0000000000000013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365277/
https://www.ncbi.nlm.nih.gov/pubmed/30614853
http://dx.doi.org/10.1097/CM9.0000000000000013

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