TY - JOUR
T1 - Familial Hypercholesterolemia
T2 - A Genetic Defect in the Low-Density Lipoprotein Receptor
AU - Brown, M. S.
AU - Goldstein, J. L.
PY - 1976/6/17
Y1 - 1976/6/17
N2 - FAMILIAL hypercholesterolemia, an example of a single-gene disorder that produces both hypercholesterolemia and atherosclerosis in man,123is characterized by four cardinal features: hypercholesterolemia resulting from an elevated plasma concentration of low-density lipoprotein; tendon xanthomas; premature coronary heart disease; and autosomal-dominant inheritance. In patients who have inherited a single copy of the gene for familial hypercholesterolemia, the plasma cholesterol level is about 300 to 500 mg per 100 ml from birth, but symptoms do not develop until the third to the sixth decade, when tendon xanthomas and coronary heart disease appear. In patients who have inherited two copies of the gene.
AB - FAMILIAL hypercholesterolemia, an example of a single-gene disorder that produces both hypercholesterolemia and atherosclerosis in man,123is characterized by four cardinal features: hypercholesterolemia resulting from an elevated plasma concentration of low-density lipoprotein; tendon xanthomas; premature coronary heart disease; and autosomal-dominant inheritance. In patients who have inherited a single copy of the gene for familial hypercholesterolemia, the plasma cholesterol level is about 300 to 500 mg per 100 ml from birth, but symptoms do not develop until the third to the sixth decade, when tendon xanthomas and coronary heart disease appear. In patients who have inherited two copies of the gene.
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U2 - 10.1056/NEJM197606172942509
DO - 10.1056/NEJM197606172942509
M3 - Review article
C2 - 177875
AN - SCOPUS:0017118504
SN - 0028-4793
VL - 294
SP - 1386
EP - 1390
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 25
ER -