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Two new point mutations have been detected in the low density lipoprotein (LDL) receptor gene of a patient with a clinical diagnosis of homozygous familial hypercholesterolemia (FH). The patient is a(More)
Familial hypercholesterolemia (FH) is caused by mutations in the LDL receptor (LDLR) gene and is usually associated with hypercholesterolemia, lipid deposition in tissues, and premature coronary(More)
Mutations in the gene for the low density lipoprotein (LDL) receptor have been identified in 15 patients with homozygous familial hypercholesterolemia (FH). Five patients are homozygous at the(More)
In this study we have analyzed the genetic defect in 42 patients with a diagnosis of heterozygous familial hypercholesterolemia (FH) by Southern blotting, SSCP, and sequencing of PCR-amplified(More)