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En la hipercolesterolemia recesiva existen receptores defectuosos del LDL. El resultado es una vulnerabilidad extrema a las patologías cardiacas.
El equipo de Helen Hobbs de la Universidad de Texas comprobó que individuos de cuatro familias con un trastorno hereditario del colesterol presentaba mutaciones en el gen sospechoso. También identificó las mutaciones en el mismo gen en otro grupo de personas que presentaban un colesterol elevado.