Abstract:SUMMARYForty-one unrelated Japanese patients with heterozygous familial hypercholesterolemia (FH) from the Kanto area (central region) of Japan were screened for mutations in the LDL receptor gene using the polymerase chain reaction (PCR)-restriction enzyme fragment length polymorphism (RFLP) and PCR-heteroduplex analysis methods, followed by sequencing and Southern blotting. Four previously described mutations, 1845+2T->C (by PCR-RFLP), and D412H, K790X and 327insC (by heteroduplex analysis), were positively … Show more
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