Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis()

Autosomal Recessive Osteopetrosis is a genetic disorder characterized by increased bone density due to lack of resorption by the osteoclasts. Genetic studies have widely unraveled the molecular basis of the most severe forms, while cases of intermediate severity are more difficult to characterize, p...

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Detalles Bibliográficos
Autores principales: Pangrazio, Alessandra, Puddu, Alessandro, Oppo, Manuela, Valentini, Maria, Zammataro, Luca, Vellodi, Ashok, Gener, Blanca, Llano-Rivas, Isabel, Raza, Jamal, Atta, Irum, Vezzoni, Paolo, Superti-Furga, Andrea, Villa, Anna, Sobacchi, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science 2014
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885796/
https://www.ncbi.nlm.nih.gov/pubmed/24269275
http://dx.doi.org/10.1016/j.bone.2013.11.014

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