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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...

詳細記述

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書誌詳細
出版年:Metabolism
主要な著者: Sharifi, Mahtab, Walus-Miarka, Małgorzata, Idzior-Waluś, Barbara, Malecki, Maciej T., Sanak, Marek, Whittall, Ros, Li, Ka Wah, Futema, Marta, Humphries, Steve E.
フォーマット: Artigo
言語:Inglês
出版事項: W.B. Saunders 2016
主題:
オンライン・アクセス: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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