Article
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Metabolism: clinical and experimental - 1 Mar 2016
Sharifi Mahtab, Walus-Miarka Małgorzata, Idzior-Waluś Barbara, Malecki Maciej T, Sanak Marek, Whittall Ros, Li Ka Wah, Futema Marta, Humphries Steve E
Abstract excerpt
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 Polish population. MATERIALS AND METHODS: 161 unrelated subjects with a clinical diagnosis of FH from the...
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