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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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