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Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I

In the last decade, the low-density lipoprotein receptor-related protein 5 (LRP5) gene, coding for a coreceptor in the canonical Wnt signalling pathway, has been shown to play an important role in regulating bone mass and to be involved in the pathogenesis of several bone disorders. Here we describe...

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Detalles Bibliográficos
Autores principales:	Pangrazio, Alessandra, Boudin, Eveline, Piters, Elke, Damante, Giuseppe, Iacono, Nadia Lo, D'Elia, Angela Valentina, Vezzoni, Paolo, Van Hul, Wim, Villa, Anna, Sobacchi, Cristina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier Science 2011
Materias:	Rapid Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149657/ https://www.ncbi.nlm.nih.gov/pubmed/21600326 http://dx.doi.org/10.1016/j.bone.2011.05.006

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