Article
Large rearrangements of the LDL receptor gene and lipid profile in a FH Spanish population.
European journal of clinical investigation - 1 Apr 2001
Chaves F J, Real J T, García-García A B, Puig O, Ordovas J M, Ascaso J F, Carmena R, Armengod M E
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density lipoprotein receptor (LDLR) gene. To date, there has not been a systematic survey of the frequency of gross mutations in the LDLR gene in the Spanish population. The objective of our study was to investigate large rearrangements in the Spanish FH population and the relation between the kind of...
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