Update on low density lipoprotein receptor mutations
- 1 April 1998
- journal article
- review article
- Published by Wolters Kluwer Health in Current Opinion in Lipidology
- Vol. 9 (2) , 141-147
- https://doi.org/10.1097/00041433-199804000-00011
Abstract
Recent research has focused on the rapid detection of new LDL receptor gene variants and large scale screening for known mutations. Whether the nature of the mutation in the LDL receptor gene in familial hypercholesterolaemia determines clinical variability has been examined, as well as the potential value of detecting mutation carriers for clinical practice. There is also evidence that some patients with clinical familial hypercholesterolaemia do not have detectable defects in the LDL receptor or apolipoprotein B.Keywords
This publication has 49 references indexed in Scilit:
- Comparison of the Genetic Defect with LDL-Receptor Activity in Cultured Cells from Patients With a Clinical Diagnosis of Heterozygous Familial HypercholesterolemiaArteriosclerosis, Thrombosis, and Vascular Biology, 1997
- Clinical characteristics of double heterozygotes with familial hypercholesterolemia and cholesteryl ester transfer protein deficiencyAtherosclerosis, 1997
- Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemiaHuman Genetics, 1997
- Familial hypercholesterolaemia: a pilot study of parents’and children's concernsActa Paediatrica, 1996
- Molecular genetics of familial hypercholesterolemia in IsraelHuman Genetics, 1996
- Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor geneHuman Genetics, 1996
- Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutationsHuman Genetics, 1996
- Phenotypic presentation of the FH-Cincinnati type 5 low density lipoprotein receptor mutationScandinavian Journal of Clinical and Laboratory Investigation, 1996
- Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.Arteriosclerosis and Thrombosis: A Journal of Vascular Biology, 1994
- Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism methodHuman Mutation, 1992