Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene.

@article{Rdningen1999PhenotypicCO,
  title={Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene.},
  author={O K R\odningen and Serena Tonstad and Jheem D. Medh and David A. Chappell and Leiv Ose and Trond P. Leren},
  journal={Journal of lipid research},
  year={1999},
  volume={40 2},
  pages={213-20}
}
Screening for structural alterations of the low density lipoprotein (LDL) receptor gene by Southern blot analysis revealed an abnormal band pattern in one subject with a clinical diagnosis of homozygous familial hypercholesterolemia (FH). The molecular defect was further characterized by polymerase chain reaction and cDNA sequencing. These analyses… CONTINUE READING