ORIGINAL
Aplicación de la secuenciación masiva de nueva generación al diagnóstico molecular de la hipercolesterolemia familiar
Applicability of next generation sequencing to the molecular diagnosis of familial hypercholesterolemia
Estefanía Martínez-Barriosa, Ana Isabel Martínez-Pucholb, Alba Roseta, Daniel Zambónc, Joan Clàriaa,b,d, Montserrat Bernata,
Autor para correspondencia
a Servicio de Bioquímica y Genética Molecular, Centro de Diagnóstico Biomédico, Hospital Clínic, Barcelona, España
b Institut d’Investigacions Biomèdiques, August Pi i Sunyer (IDIBAPS), Barcelona, España
c Unidad de Lípidos, Servicio de Endocrinología, Hospital Clínic, Barcelona, España
d Departamento de Ciencias Fisiológicas I, Facultad de Medicina, Universitat de Barcelona, Barcelona, España
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