Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy
- 1 September 1998
- journal article
- letter
- Published by Springer Nature in Nature Genetics
- Vol. 20 (1) , 96-98
- https://doi.org/10.1038/1770
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease.Journal of Clinical Investigation, 1995
- The High Density Lipoprotein- and Apolipoprotein A-I-Induced Mobilization of Cellular Cholesterol Is Impaired in Fibroblasts from Tangier Disease SubjectsBiochemical and Biophysical Research Communications, 1994
- Homozygous Tangier disease and cardiovascular diseaseAtherosclerosis, 1994
- Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.Journal of Clinical Investigation, 1993
- A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.Proceedings of the National Academy of Sciences, 1991
- A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.Journal of Clinical Investigation, 1991
- DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.Proceedings of the National Academy of Sciences, 1987
- Lipoproteins, Cardiovascular Disease, and DeathArchives of internal medicine (1960), 1981
- THE TROMSØHEART-STUDYThe Lancet, 1977
- Tangier DiseaseAnnals of Internal Medicine, 1961