Search Results - Open Polar - "osteogenesis imperfecta"

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Two Rare Mutations in the COL1A2 Gene Associate with Low Bone Mineral Density and Fractures in Iceland

by Styrkarsdottir, U, Thorleifsson, G, Eiriksdottir, B, Gudjonsson, SA, Ingvarsson, T, Center, JR, Nguyen, TV, Eisman, JA, Christiansen, C, Thorsteinsdottir, U, Sigurdsson, G, Stefansson, K
Published 2016
“... to cause the autosomal dominant disorder osteogenesis imperfecta. Both variants associate with low BMD...”

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Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.

by Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Eiriksdottir, Berglind, Gudjonsson, Sigurjon A, Ingvarsson, Thorvaldur, Center, Jacqueline R, Nguyen, Tuan V, Eisman, John A, Christiansen, Claus, Thorsteinsdottir, Unnur, Sigurdsson, Gunnar, Stefansson, Kari
Published in Journal of Bone and Mineral Research (2016)
“...), respectively. The carriers of these variants do not have signs of osteogenesis imperfecta other than low BMD...”

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