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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Dettagli Bibliografici
Pubblicato in:Metabolism
Autori principali: Sharifi, Mahtab, Walus-Miarka, Małgorzata, Idzior-Waluś, Barbara, Malecki, Maciej T., Sanak, Marek, Whittall, Ros, Li, Ka Wah, Futema, Marta, Humphries, Steve E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: W.B. Saunders 2016
Soggetti:
Brief Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4766367/
https://ncbi.nlm.nih.gov/pubmed/26892515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.metabol.2015.10.018
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