A three-allelic polymorphic system in exon 12 of the LDL receptor gene is highly informative for segregation analysis of familial hypercholesterolemia in the Spanish population.

Abstract

We have screened exon 12 of the low density lipoprotein (LDL) receptor gene from 46 familial hypercholesterolemia (FH) heterozygotes and 64 normolipidemic controls for two polymorphisms, HincII, which is caused by a T to C substitution at base 1773, and a C to T transition at base 1725, by using single strand conformation polymorphism (SSCP) analysis. Our… (More)

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@article{Puig1996ATP, title={A three-allelic polymorphic system in exon 12 of the LDL receptor gene is highly informative for segregation analysis of familial hypercholesterolemia in the Spanish population.}, author={Oriol Puig Puig and Fernando Chaves and Magdalena Garc{\'i}a-Sogo and J. Real and Judith Gil and Mar{\'i}a-Eugenia Armengod}, journal={Clinical genetics}, year={1996}, volume={50 1}, pages={50-3} }