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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Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier Science 2014
Soggetti:
Rapid Communication
Accesso online: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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