Article
Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects.
Seminars in vascular medicine - 1 Feb 2004
Pocovi Miguel, Civeira Fernando, Alonso Rodrigo, Mata Pedro
Abstract excerpt
A case-finding program for the identification of patients with familial hypercholesterolemia (FH) has been established in Spain. The program is based on family investigation and molecular genetic testing for mutations in the low-density lipoprotein receptor gene. To assist this program, intensive research into the molecular basis of FH and genotype/phenotype relations is performed. To optimize DNA testing, a...
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