Browsing by Author "Reeves, Kaajal"
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- Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemiaPublication . Alves, Ana Catarina; Benito-Vicente, Asier; Medeiros, Ana Margarida; Reeves, Kaajal; Martin, Cesar; Bourbon, MafaldaAPOB mutations are a rare cause of familial hypercholesterolaemia (FH) and, until recently, routine genetic diagnosis only included the study of two small APOB fragments. In previous years, 5 novel functional mutations have been described in APOB fragments not routinely studied, our group having functionally characterized 2 of them. The main aim of this work was to identify and characterize novel alterations in APOB to assess the genetic cause of hypercholesterolemia in patients with a clinical diagnosis of FH.