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
Publicado en: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.
Formato: Artigo
Idioma:Inglês
Publicado: W.B. Saunders 2016
Assuntos:
Brief Report
Acceso en liña: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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