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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Ratajewski, Marcin, de Boussac, Hugues, Sachrajda, Iwona, Bacquet, Caroline, Kovács, Tünde, Váradi, András, Pulaski, Lukasz, Arányi, Tamás
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2012
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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