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

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 (<i>LDLR</i>) 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 consequen...

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Bibliographic Details
Main Authors: Nicolás M. Suárez, Shifa Jebari-Benslaiman, Roberto Jiménez-Monzón, Asier Benito-Vicente, Yeray Brito-Casillas, Laida Garcés, Ana M. González-Lleo, Antonio Tugores, Mauro Boronat, César Martin, Ana M. Wägner, Rosa M. Sánchez-Hernández
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:International Journal of Molecular Sciences
Subjects:
familial hypercholesterolaemia
founder effect
mutation
<i>LDLR</i> gene
origin
Gran Canaria
Online Access:https://www.mdpi.com/1422-0067/24/14/11319

Internet

https://www.mdpi.com/1422-0067/24/14/11319

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