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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier Science 2014
Témata:
Rapid Communication
On-line přístup: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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