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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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| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier Science
2014
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| Teme: | |
| Online dostop: | 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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