IDENTIFICATION OF A DELETION IN THE LDL RECEPTOR GENE - A FINNISH TYPE OF MUTATION

[1] POLYMORPHIC DNA REGION ADJACENT TO THE 5'-END OF THE HUMAN INSULIN GENE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (09): : 5759 - 5763

[2] FAMILIAL HYPERCHOLESTEROLEMIA IN SOUTH-AFRICAN AFRIKANERS - PVUII AND STU I DNA POLYMORPHISMS IN THE LDL-RECEPTOR GENE CONSISTENT WITH A PREDOMINATING FOUNDER GENE EFFECT [J]. HUMAN GENETICS, 1987, 77 (01) : 32 - 35

[3] A RECEPTOR-MEDIATED PATHWAY FOR CHOLESTEROL HOMEOSTASIS [J]. SCIENCE, 1986, 232 (4746) : 34 - 47

[4] DAVIS CG, 1986, CELL, V45, P15, DOI 10.1016/0092-8674(86)90533-7

[5] ASSIGNMENT OF THE HUMAN-GENE FOR THE LOW-DENSITY LIPOPROTEIN RECEPTOR TO CHROMOSOME-19 - SYNTENY OF A RECEPTOR, A LIGAND, AND A GENETIC-DISEASE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (09): : 2826 - 2830

[6] GOLDSTEIN JL, 1983, METABOLIC BASIS INHE, P672

[7] HOBBS HH, 1986, J BIOL CHEM, V261, P3114

[8] POLYMORPHISM AND EVOLUTION OF ALU SEQUENCES IN THE HUMAN LOW-DENSITY LIPOPROTEIN RECEPTOR GENE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (22) : 7651 - 7655

[9] DELETION IN THE GENE FOR THE LOW-DENSITY-LIPOPROTEIN RECEPTOR IN A MAJORITY OF FRENCH-CANADIANS WITH FAMILIAL HYPERCHOLESTEROLEMIA [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1987, 317 (12) : 734 - 737

[10] HOBBS HH, 1988, IN PRESS J CLIN INVE

[1] POLYMORPHIC DNA REGION ADJACENT TO THE 5'-END OF THE HUMAN INSULIN GENE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (09): : 5759 - 5763

[2] FAMILIAL HYPERCHOLESTEROLEMIA IN SOUTH-AFRICAN AFRIKANERS - PVUII AND STU I DNA POLYMORPHISMS IN THE LDL-RECEPTOR GENE CONSISTENT WITH A PREDOMINATING FOUNDER GENE EFFECT [J]. HUMAN GENETICS, 1987, 77 (01) : 32 - 35

[3] A RECEPTOR-MEDIATED PATHWAY FOR CHOLESTEROL HOMEOSTASIS [J]. SCIENCE, 1986, 232 (4746) : 34 - 47

[4] DAVIS CG, 1986, CELL, V45, P15, DOI 10.1016/0092-8674(86)90533-7

[5] ASSIGNMENT OF THE HUMAN-GENE FOR THE LOW-DENSITY LIPOPROTEIN RECEPTOR TO CHROMOSOME-19 - SYNTENY OF A RECEPTOR, A LIGAND, AND A GENETIC-DISEASE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (09): : 2826 - 2830

[6] GOLDSTEIN JL, 1983, METABOLIC BASIS INHE, P672

[7] HOBBS HH, 1986, J BIOL CHEM, V261, P3114

[8] POLYMORPHISM AND EVOLUTION OF ALU SEQUENCES IN THE HUMAN LOW-DENSITY LIPOPROTEIN RECEPTOR GENE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (22) : 7651 - 7655

[9] DELETION IN THE GENE FOR THE LOW-DENSITY-LIPOPROTEIN RECEPTOR IN A MAJORITY OF FRENCH-CANADIANS WITH FAMILIAL HYPERCHOLESTEROLEMIA [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1987, 317 (12) : 734 - 737

[10] HOBBS HH, 1988, IN PRESS J CLIN INVE