Article
Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia.
Nutrition, metabolism, and cardiovascular diseases : NMCD - 1 Dec 2001
Cefalù A B, Emmanuele G, Marino G, Fiore B, Caldarella R, Vivona N, Noto D, Barbagallo C M, Costa S, Gueli M C, Bertolini S, Notarbartolo A, Travali S, Averna M R
Abstract excerpt
BACKGROUND AND AIM: More than 750 mutations in the low-density lipoprotein (LDL) receptor gene are currently known to cause familial hypercholesterolemia (FH), but the array of mutations varies considerably in different populations. The definition of essentially all the LDL receptor gene mutations in a population is therefore a prerequisite for the implementation of nation-wide genetic testing for FH. METHODS AND...
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