Article
Flow cytometric measurement of low density lipoprotein receptor activity validated by DNA analysis in diagnosing heterozygous familial hypercholesterolemia.
Cytometry - 15 Oct 1997
Urdal P, Leren T P, Tonstad S, Lund P K, Ose L
Abstract excerpt
We have evaluated whether low density lipoprotein (LDL) receptor activity of stimulated lymphocytes, as measured by an improved flow cytometric assay, may be used to diagnose familial hypercholesterolemia (FH). Cells were isolated from 75 children suspected from strict clinical criteria to be FH heterozygotes and from 29 normal children. DNA from the FH patients were also subjected to molecular genetic analysis...
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