Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis

BACKGROUND: Autosomal recessive osteopetrosis is a rare skeletal disorder with increased bone density due to a failure in osteoclast bone resorption. In most cases, the defect is cell-autonomous, and >50% of patients bear mutations in the TCIRG1 gene, encoding for a subunit of the vacuolar proton...

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Detalles Bibliográficos
Autores principales: Palagano, Eleonora, Muggeo, Sharon, Crisafulli, Laura, Tourkova, Irina L., Strina, Dario, Mantero, Stefano, Fontana, Elena, Locatelli, Silvia L., Monari, Marta, Morenghi, Emanuela, Carlo-Stella, Carmelo, Barnett, John B., Blair, Harry C., Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina, Ficara, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6953598/
https://www.ncbi.nlm.nih.gov/pubmed/31938717
http://dx.doi.org/10.1016/j.bonr.2020.100242

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