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Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications

Autosomal dominant osteopetrosis type 2 (ADO2) is a high-density brittle bone disease characterized by bone pain, multiple fractures and skeletal-related events, including nerve compression syndrome and hematological failure. We demonstrated that in mice carrying the heterozygous Clcn7(G213R) mutati...

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Detalles Bibliográficos
Autores principales: Maurizi, Antonio, Capulli, Mattia, Curle, Annabel, Patel, Rajvi, Ucci, Argia, Côrtes, Juliana Alves, Oxford, Harriet, Lamandé, Shireen R., Bateman, John F., Rucci, Nadia, Teti, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6559989/
https://www.ncbi.nlm.nih.gov/pubmed/31231577
http://dx.doi.org/10.1038/s41413-019-0055-x