Age, Origin and Functional Study of the Prevalent LDLR Mutation Causing Familial Hypercholesterolaemia in Gran Canaria

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 purpo...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379432/
https://www.ncbi.nlm.nih.gov/pubmed/37511081
http://dx.doi.org/10.3390/ijms241411319

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379432/
https://www.ncbi.nlm.nih.gov/pubmed/37511081
http://dx.doi.org/10.3390/ijms241411319

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