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ABCC6 expression is regulated by CCAAT/Enhancer binding protein activating a primate-specific sequence located in the first intron of the gene
Pseudoxanthoma elasticum (PXE), a rare recessive genetic disease causing skin, eye and cardiovascular lesions is characterized by the calcification of elastic fibers. The disorder is due to loss-of-function mutations of the ABCC6 gene but the pathophysiology of the disease is still not understood. H...
Gorde:
| Egile Nagusiak: | , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2012
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3509247/ https://ncbi.nlm.nih.gov/pubmed/22763786 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2012.218 |
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