Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder primarily characterized by susceptibility to fracture. Although OI generally results from mutations in the type I collagen genes, COL1A1 and COL1A2, the relationship between genot...

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Detalles Bibliográficos
Autores principales: Bodian, Dale L., Chan, Ting-Fung, Poon, Annie, Schwarze, Ulrike, Yang, Kathleen, Byers, Peter H., Kwok, Pui-Yan, Klein, Teri E.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2009
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638801/
https://www.ncbi.nlm.nih.gov/pubmed/18996919
http://dx.doi.org/10.1093/hmg/ddn374

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