Article
Age, Origin and Functional Study of the Prevalent LDLR Mutation Causing Familial Hypercholesterolaemia in Gran Canaria.
International journal of molecular sciences - 11 Jul 2023
Suárez Nicolás M, Jebari-Benslaiman Shifa, Jiménez-Monzón Roberto, Benito-Vicente Asier, Brito-Casillas Yeray, Garcés Laida, González-Lleo Ana M, Tugores Antonio, Boronat Mauro, Martin César, Wägner Ana M, Sánchez-Hernández Rosa M
Abstract excerpt
The p.(Tyr400_Phe402del) mutation in the LDL receptor (LDLR) gene is the most frequent cause of familial hypercholesterolaemia (FH) in Gran Canaria. The aim of this study was to determine the age and origin of this prevalent founder mutation and to explore its functional consequences. For this purpose, we obtained the haplotypic information of 14 microsatellite loci surrounding the mutation in one homozygous...
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