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The genetic spectrum of familial hypercholesterolemia in south-eastern Poland

BACKGROUND: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder with a frequency of 1 in 200 to 500 in most European populations. Mutations in LDLR, APOB and PCSK9 genes are known to cause FH. In this study, we analyzed the genetic spectrum of the disease in the understudied P...

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Detalles Bibliográficos
Autores principales: Sharifi, Mahtab, Walus-Miarka, Małgorzata, Idzior-Waluś, Barbara, Malecki, Maciej T., Sanak, Marek, Whittall, Ros, Li, Ka Wah, Futema, Marta, Humphries, Steve E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: W.B. Saunders 2016
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766367/
https://www.ncbi.nlm.nih.gov/pubmed/26892515
http://dx.doi.org/10.1016/j.metabol.2015.10.018