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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Metabolism
Main Authors: Sharifi, Mahtab, Walus-Miarka, Małgorzata, Idzior-Waluś, Barbara, Malecki, Maciej T., Sanak, Marek, Whittall, Ros, Li, Ka Wah, Futema, Marta, Humphries, Steve E.
Format: Artigo
Jezik:Inglês
Izdano: W.B. Saunders 2016
Teme:
Brief Report
Online dostop: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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