Heterozygous familial hypercholesterolemia: a new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia

Hum Mutat. 1999 Oct;14(4):357. doi: 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU22>3.0.CO;2-6.

Authors

K Widhalm¹, C Iro, A Lindemayr, H Schmidt, G Kostner

Affiliation

¹ Dept. of Pediatrics, University of Vienna, Austria.

PMID: 10502834
DOI: 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU22>3.0.CO;2-6

No abstract available

MeSH terms

Arteriosclerosis / genetics
Chromosomes, Human, Pair 19
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
Hyperlipoproteinemia Type II / drug therapy
Hyperlipoproteinemia Type II / genetics*
Male
Middle Aged
Point Mutation
Polymerase Chain Reaction
Receptors, LDL / genetics*
Treatment Failure

Substances

Hydroxymethylglutaryl-CoA Reductase Inhibitors
Receptors, LDL