A point mutation of low‐density‐lipoprotein receptor causing rapid degradation of the receptor

The exons of the low‐density‐lipoprotein‐(LDL)‐receptor gene from a Japanese patient with homozygous familial hypercholesterolemia were amplified by the polymerase chain reaction (PCR), and their nucleotide sequences were determined. A point mutation from G to C was found in exon 9, which was expect...

Ausführliche Beschreibung