IDENTIFICATION OF DELETIONS IN THE HUMAN LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE

[1] FAMILIAL HYPERCHOLESTEROLEMIA - DEFECTIVE BINDING OF LIPOPROTEINS TO CULTURED FIBROBLASTS ASSOCIATED WITH IMPAIRED REGULATION OF 3-HYDROXY-3-METHYLGLUTARYL COENZYME A REDUCTASE-ACTIVITY [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1974, 71 (03) : 788 - 792

[2] EXPRESSION OF FAMILIAL HYPERCHOLESTEROLEMIA GENE IN HETEROZYGOTES - MECHANISM FOR A DOMINANT DISORDER IN MAN [J]. SCIENCE, 1974, 185 (4145) : 61 - 63

[3] FEINBERG AP, 1984, ANAL BIOCHEM, V137, P266

[4] Fredrickson D. S., 1978, METABOLIC BASIS INHE, P604

[5] HYPERLIPIDEMIA IN CORONARY HEART-DISEASE .2. GENETIC ANALYSIS OF LIPID-LEVELS IN 176 FAMILIES AND DELINEATION OF A NEW INHERITED DISORDER, COMBINED HYPERLIPIDEMIA [J]. JOURNAL OF CLINICAL INVESTIGATION, 1973, 52 (07) : 1544 - 1568

[6] FAMILIAL HYPERCHOLESTEROLEMIA - A GENETIC AND METABOLIC STUDY [J]. MEDICINE, 1966, 45 (02) : 77 - &

[7] IDENTIFICATION OF A DELETION IN THE LOW-DENSITY LIPOPROTEIN (LDL) RECEPTOR GENE IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA [J]. HUMAN GENETICS, 1985, 71 (01) : 75 - 78

[8] HORSTHEMKE B, IN PRESS EUR J BIOCH

[9] HUMPHRIES SE, 1985, LANCET, V1, P1003

[10] THE USE OF POLYMORPHIC DNA AND PROTEIN MARKERS FOR THE 3RD COMPLEMENT COMPONENT FOR DETERMINING LINKAGE OF FAMILIAL HYPERCHOLESTEROLEMIA [J]. ATHEROSCLEROSIS, 1984, 52 (03) : 267 - 278

[1] FAMILIAL HYPERCHOLESTEROLEMIA - DEFECTIVE BINDING OF LIPOPROTEINS TO CULTURED FIBROBLASTS ASSOCIATED WITH IMPAIRED REGULATION OF 3-HYDROXY-3-METHYLGLUTARYL COENZYME A REDUCTASE-ACTIVITY [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1974, 71 (03) : 788 - 792

[2] EXPRESSION OF FAMILIAL HYPERCHOLESTEROLEMIA GENE IN HETEROZYGOTES - MECHANISM FOR A DOMINANT DISORDER IN MAN [J]. SCIENCE, 1974, 185 (4145) : 61 - 63

[3] FEINBERG AP, 1984, ANAL BIOCHEM, V137, P266

[4] Fredrickson D. S., 1978, METABOLIC BASIS INHE, P604

[5] HYPERLIPIDEMIA IN CORONARY HEART-DISEASE .2. GENETIC ANALYSIS OF LIPID-LEVELS IN 176 FAMILIES AND DELINEATION OF A NEW INHERITED DISORDER, COMBINED HYPERLIPIDEMIA [J]. JOURNAL OF CLINICAL INVESTIGATION, 1973, 52 (07) : 1544 - 1568

[6] FAMILIAL HYPERCHOLESTEROLEMIA - A GENETIC AND METABOLIC STUDY [J]. MEDICINE, 1966, 45 (02) : 77 - &

[7] IDENTIFICATION OF A DELETION IN THE LOW-DENSITY LIPOPROTEIN (LDL) RECEPTOR GENE IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA [J]. HUMAN GENETICS, 1985, 71 (01) : 75 - 78

[8] HORSTHEMKE B, IN PRESS EUR J BIOCH

[9] HUMPHRIES SE, 1985, LANCET, V1, P1003

[10] THE USE OF POLYMORPHIC DNA AND PROTEIN MARKERS FOR THE 3RD COMPLEMENT COMPONENT FOR DETERMINING LINKAGE OF FAMILIAL HYPERCHOLESTEROLEMIA [J]. ATHEROSCLEROSIS, 1984, 52 (03) : 267 - 278