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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
ArticleAbstract: Pseudoxanthoma elasticum (PXE), a rare recessive genetic disease causing skin, eye, and cardiovasculPalabras claves:Autores:Arányi T., Caroline Bacquet, de Boussac H., Kovács T., Pulaski L., Ratajewski M., Sachrajda I., Váradi A.Fuentes:scopusTranscriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations
ReviewAbstract: The human ATP-binding cassette family C member 6 (ABCC6) gene encodes an ABC transporter protein expPalabras claves:4-phenyl-butyrate, Abcc6, C/EBPβ, Calcification, Generalized arterial calcification in infancy, HNF4α, Pseudoxanthoma elasticumAutores:Arányi T., Brampton C.N., Caroline Bacquet, de Boussac H., Fülöp K., Le Saux O., Pomozi V., Pulaski L., Ratajewski M., Váradi A.Fuentes:scopus