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Arteriosclerosis (Dallas, Tex.)|January 1, 1989
Molecular basis of familial hypercholesterolemiaD W Russell, V Esser, H H HobbsThe Journal of Biological Chemistry|September 15, 1988
Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transportV Esser, D W RussellProceedings of the National Academy of Sciences of the United States of America|November 1, 1985
Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor geneH H Hobbs, M A Lehrman, T Yamamoto, et al.The Journal of Biological Chemistry|October 5, 1986
Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemiaH H Hobbs, M S Brown, J L Goldstein, et al.The Journal of Clinical Investigation|March 1, 1988
Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletionsH H Hobbs, E Leitersdorf, J L Goldstein, et al.The New England Journal of Medicine|September 17, 1987
Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemiaH H Hobbs, M S Brown, D W Russell, et al.The Journal of Biological Chemistry|September 15, 1988
Mutational analysis of the ligand binding domain of the low density lipoprotein receptorV Esser, L E Limbird, M S Brown, et al.Genomics|September 1, 1992
Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12J C Cohen, J J Cali, D F Jelinek, et al.Cold Spring Harbor Symposia on Quantitative Biology|January 1, 1986
The LDL receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane proteinD W Russell, M A Lehrman, T C Südhof, et al.American Journal of Human Genetics|May 1, 1990
A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequencesG Zuliani, H H HobbsPageof 26