Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency

SERPING1 mutations causing Hereditary Angioedema type I (HAE-I) due to C1-Inhibitor (C1-INH) deficiency display a dominant-negative effect usually resulting in protein levels far below the expected 50%. To further investigate mechanisms for its reduced expression, we analyzed the promoter DNA methyl...

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Detalles Bibliográficos
Autores principales: López-Lera, Alberto, Pernia, Olga, López-Trascasa, Margarita, Ibanez de Caceres, Inmaculada
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115163/
https://www.ncbi.nlm.nih.gov/pubmed/25053016
http://dx.doi.org/10.1186/s13023-014-0103-y

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