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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374890/ https://www.ncbi.nlm.nih.gov/pubmed/22487062 http://dx.doi.org/10.1186/1471-2350-13-26 |
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