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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1993
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC45947/
https://ncbi.nlm.nih.gov/pubmed/8446583
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