Phenotype of definite familial hypercholesterolemia with negative genetic study in Argentina.

Conclusions: We can conclude that 28% of the patients with definite clinical diagnosis of FH did not show genetic alteration. The possible explanations for this result would be the presence of mutations in new genes, confusing effects of the environment over the genes, the gene-gene interactions, and finally the impossibility of detecting variants with the current available methods.
PMID: 32897268 [PubMed - as supplied by publisher]

Source: Archivos de Cardiologia de Mexico - September 9, 2020 Category: Cardiology Authors: Corral P, Bañares V, Sáenz B, Zago V, Sarobe A, López G, Berg G, Schreier L Tags: Arch Cardiol Mex Source Type: research