Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement

Familial hypercholesterolemia (FH) is the most common genetic disease caused by variants in LDLR, APOB, PCSK9 genes; it is characterized by high levels of LDL‐cholesterol and premature cardiovascular disease. We aim to perform a retrospective analysis of a genetically screened population (528 unrela...

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Detalles Bibliográficos
Autores principales: Di Taranto, Maria Donata, Giacobbe, Carola, Palma, Daniela, Iannuzzo, Gabriella, Gentile, Marco, Calcaterra, Ilenia, Guardamagna, Ornella, Auricchio, Renata, Di Minno, Matteo Nicola Dario, Fortunato, Giuliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291778/
https://www.ncbi.nlm.nih.gov/pubmed/34297352
http://dx.doi.org/10.1111/cge.14036

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291778/
https://www.ncbi.nlm.nih.gov/pubmed/34297352
http://dx.doi.org/10.1111/cge.14036

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