Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by pathogenic variants in genes encoding for LDL receptor (LDLR), Apolipoprotein B and Proprotein convertase subtilisin/kexin type 9 (PCSK9). Among PCSK9 variants, only Gain-of- Function (GOF) variants lead to FH. Greater att...

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Detalles Bibliográficos
Autores principales: Di Taranto, Maria Donata, Benito-Vicente, Asier, Giacobbe, Carola, Uribe, Kepa Belloso, Rubba, Paolo, Etxebarria, Aitor, Guardamagna, Ornella, Gentile, Marco, Martín, Cesar, Fortunato, Giuliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681505/
https://www.ncbi.nlm.nih.gov/pubmed/29127338
http://dx.doi.org/10.1038/s41598-017-15543-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681505/
https://www.ncbi.nlm.nih.gov/pubmed/29127338
http://dx.doi.org/10.1038/s41598-017-15543-x

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