As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene†

Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of human malignant autosomal recessive osteopetrosis (ARO), a rare inherited bone disease with increased bone density owing to a failure in bone resorption. A wide variety of...

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Detalles Bibliográficos
Autores principales: Sobacchi, Cristina, Pangrazio, Alessandra, Lopez, Antonio González-Meneses, Gomez, Diego Pascual-Vaca, Caldana, Maria Elena, Susani, Lucia, Vezzoni, Paolo, Villa, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Clinical Vignette
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258090/
https://www.ncbi.nlm.nih.gov/pubmed/24535816
http://dx.doi.org/10.1002/jbmr.2203

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258090/
https://www.ncbi.nlm.nih.gov/pubmed/24535816
http://dx.doi.org/10.1002/jbmr.2203

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