Article
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
Seminars in vascular medicine - 1 Feb 2004
Leren Trond P, Manshaus Turid, Skovholt Unn, Skodje Tove, Nossen Inger Esther, Teie Christél, Sørensen Stine, Bakken Kari Solberg
Abstract excerpt
A total of 119 different mutations in the low-density lipoprotein-receptor gene have so far been found to cause familial hypercholesterolemia (FH) among Norwegian patients. As of April 2003, 2390 patients from 959 unrelated families were provided with a molecular genetic diagnosis. Of these, 25.3% had xanthomas and 8.4% had xanthelasma. During the last 2-3 years, a systematic family-based program to identify...
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