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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Metabolism
Prif Awduron: Sharifi, Mahtab, Walus-Miarka, Małgorzata, Idzior-Waluś, Barbara, Malecki, Maciej T., Sanak, Marek, Whittall, Ros, Li, Ka Wah, Futema, Marta, Humphries, Steve E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: W.B. Saunders 2016
Pynciau:
Brief Report
Mynediad Ar-lein: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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