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Osteogenesis Imperfecta due to Mutations in Non-Collagenous Genes-Lessons in the Biology of Bone Formation

PURPOSE OF REVIEW: Osteogenesis imperfecta (OI), or “brittle bone disease”, has mainly been considered a bone disorder caused by collagen mutations. Within the last decade, however, a surge of genetic discoveries has created a new paradigm for OI as a collagen-related disorder, where autosomal domin...

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Detalhes bibliográficos
Main Authors: Marini, Joan C., Reich, Adi, Smith, Simone M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4183132/
https://ncbi.nlm.nih.gov/pubmed/25007323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MOP.0000000000000117
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