Article
Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.
Clinical chemistry - 1 Nov 2002
Bodamer Olaf A, Bercovich Dan, Schlabach Michael, Ballantyne Christie, Zoch Danièle, Beaudet Arthur L
Abstract excerpt
BACKGROUND: Autosomal dominant familial hypercholesterolemia (FH) attributable to mutations in the LDL receptor (LDLR) gene is one of the most common genetic disorders associated with significant morbidity and mortality. Definitive diagnosis would help to initiate appropriate treatment to prevent premature cardiovascular disease. Currently, clinical diagnosis of FH is imprecise, and molecular diagnosis is...
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