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Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?

BACKGROUND: The clinical phenotype of Pseudoxanthoma elasticum (PXE) affected patients, although progressive with age, is very heterogeneous, even in the presence of identical ABCC6 mutations, thus suggesting the occurrence of modifier genes. Beside typical skin manifestations, the cardiovascular (C...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Boraldi, Federica, Costa, Sonia, Rabacchi, Claudio, Ciani, Miriam, Vanakker, Olivier, Quaglino, Daniela
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121367/
https://ncbi.nlm.nih.gov/pubmed/27896127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.11.002
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