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Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.

We have analysed six South African families with osteogenesis imperfecta type I using three DNA polymorphisms associated with the pro alpha 2(I) collagen gene. In four of these families linkage of the pro alpha 2(I) gene and the osteogenesis imperfecta phenotype was suggested, whereas in the remaini...

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Detalles Bibliográficos
Main Authors: Wallis, G, Beighton, P, Boyd, C, Mathew, C G
Formato: Artigo
Idioma:Inglês
Publicado: 1986
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049777/
https://ncbi.nlm.nih.gov/pubmed/3023615
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