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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...
Autores principales: | Sharifi, Mahtab, Walus-Miarka, Małgorzata, Idzior-Waluś, Barbara, Malecki, Maciej T., Sanak, Marek, Whittall, Ros, Li, Ka Wah, Futema, Marta, Humphries, Steve E. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
W.B. Saunders
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766367/ https://www.ncbi.nlm.nih.gov/pubmed/26892515 http://dx.doi.org/10.1016/j.metabol.2015.10.018 |
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