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Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1).

Phenotype variability and incomplete penetrance are frequently observed in human monogenic diseases such as osteogenesis imperfecta. Here an inbred strain of transgenic mice expressing an internally deleted gene for the pro alpha 1(I) chain of type I procollagen (COL1A1) was bred to wild type mice o...

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Detalles Bibliográficos
Main Authors: Pereira, R, Halford, K, Sokolov, B P, Khillan, J S, Prockop, D J
Formato: Artigo
Idioma:Inglês
Publicado: 1994
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC294239/
https://ncbi.nlm.nih.gov/pubmed/8163675
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