Browsing Artículos, Comunicaciones, Libros by Author "Echevarria Gallego, Aitor"

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      Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment 

      Echevarria Gallego, Aitor; Benito Vicente, Asier; Ostolaza Echabe, Elena Amaya; Martín Plágaro, César Augusto (Public Library Science, 2014-11-11)
      Familial hypercholesterolemia (FH) is a common autosomal codominant disease with a frequency of 1:500 individuals in its heterozygous form. The genetic basis of FH is most commonly mutations within the LDLR gene. Assessing ...
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      Characterization of the first PCSK9 gain of function homozygote 

      Alves, Ana Catarina; Echevarria Gallego, Aitor; Medeiros, Ana; Benito Vicente, Asier; Thedrez, Aurelie; Passard, Maxime; Croyal, Mikael; Martín Plágaro, César Augusto; Lambert, Guilles; Bourbon, Mafalda (Elsevier / American College of Cardiology, 2015-11)
      Gain of function (GOF) mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) are a rare cause of familial hypercholesterolemia (FH). We identified a child with a clinical diagnosis of FH with 2 novel putative ...