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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Hlavní autoři: Pangrazio, Alessandra, Boudin, Eveline, Piters, Elke, Damante, Giuseppe, Iacono, Nadia Lo, D'Elia, Angela Valentina, Vezzoni, Paolo, Van Hul, Wim, Villa, Anna, Sobacchi, Cristina
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier Science 2011
Témata:
Rapid Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3149657/
https://ncbi.nlm.nih.gov/pubmed/21600326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2011.05.006
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