Article
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
BMC medical genetics - 28 Sept 2015
Radovica-Spalvina Ilze, Latkovskis Gustavs, Silamikelis Ivars, Fridmanis Davids, Elbere Ilze, Ventins Karlis, Ozola Guna, Erglis Andrejs, Klovins Janis
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is one of the commonest monogenic disorders, predominantly inherited as an autosomal dominant trait. When untreated, it results in early coronary heart disease. The vast majority of FH remains undiagnosed in Latvia. The identification and early treatment of affected individuals remain a challenge worldwide. Most cases of FH are caused by mutations in one of four...
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