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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Elsevier Science 2014
Assuntos:
Rapid Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3885796/
https://ncbi.nlm.nih.gov/pubmed/24269275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2013.11.014
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