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A rare silent G to T mutation in exon 4 of the human low density lipoprotein receptor gene

Description of polymorphisnz: The 5’-half of exon 4 of the LDLR gene was amplified by the polymerase chain reaction (PCR) from genomic DNA of hypercholesterolemic Belgian patients. A silent base change of G to T at nucleotide position 324 (third position of codon 87 Thr) in the LDLR cDNA (Yamamoto et al. 1984) was identified by heteroduplex analysis and subsequent DNA sequencing of PCR products. The following amplification primers were used: