Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue associated with fractures, osteopenia, and short stature. OI results from mutations affecting the pro alpha 1 or pro alpha 2 gene of type I collagen. We describe a strain of mice with a nonlethal recessively inherited mutation...

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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Chipman, S D, Sweet, H O, McBride, D J, Davisson, M T, Marks, S C, Shuldiner, A R, Wenstrup, R J, Rowe, D W, Shapiro, J R
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1993
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC45947/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8446583/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.90.5.1701
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