Original
Análisis funcional de mutaciones en el promotor del LDLR y su relación con la hipercolesterolemia familiar
Functional analysis of LDLR promoter mutations and their relationship with familial hypercholesterolemia
Isabel de Castro-Orósa,b,
, Alfonso Bolado-Carrancioc, Sandra Pampínc, Lourdes Palaciosd, Nuria Planae, Aguirre de Cubasa, Esperanza Martorellf, José Puzog, Marianne Stefd, Luis Masanae, Fernando Civeirab,h, José Carlos Rodríguez-Reyc, Miguel Pocovía,i
Autor para correspondencia
a Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Instituto Aragonés de Ciencias de la Salud (I+CS), Zaragoza, España
b RECAVA, Instituto de Salud Carlos III, Zaragoza, España
c Departamento de Biología Molecular, Facultad de Medicina, Universidad de Cantabria e Instituto de Formación e Investigación Marqués de Valdecilla (IFIMAV), Santander, España
d Progenika Biopharma, S.A., Derio, Vizcaya, España
e Unitat de Medicina Vascular i Metabolisme (CIBERDEM), Universitat Rovira i Virgili, Reus, Tarragona, España
f Hospital Comarcal de Inca, Islas Baleares, España
g Departamento de Bioquímica, Hospital San Jorge, Huesca, España
h Unidad de Lípidos y Laboratorio de Investigación Molecular, Hospital Universitario Miguel Servet, Instituto Aragonés de Ciencias de la Salud (I+CS), Zaragoza, España
i Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Zaragoza, España
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