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Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

BACKGROUND: Primary osteoporosis is a rare childhood-onset skeletal condition whose pathogenesis has been largely unknown. We have previously shown that primary osteoporosis can be caused by heterozygous missense mutations in the Low-density lipoprotein receptor-related protein 5 (LRP5) gene, and th...

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Detalhes bibliográficos
Main Authors: Korvala, Johanna, Jüppner, Harald, Mäkitie, Outi, Sochett, Etienne, Schnabel, Dirk, Mora, Stefano, Bartels, Cynthia F, Warman, Matthew L, Deraska, Donald, Cole, William G, Hartikka, Heini, Ala-Kokko, Leena, Männikkö, Minna
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3374890/
https://ncbi.nlm.nih.gov/pubmed/22487062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-26
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