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- W3140510435 abstract "A group of 200 patients with familial hypercholesterolemia (FH) who were attending lipid clinics in the London area have been screened for four known point mutations and a microdeletion in exon 4 of the low density lipoprotein receptor gene by polymerase chain reaction (PCR) amplification of genomic DNA and either enzyme digestion of the product or hybridization with allele-specific oligonucleotides. A point mutation of Ser156-->Leu that was initially described in a Puerto Rican family was found in one patient of Polish origin on a different haplotype from that described originally and thus is likely to have occurred independently. A 3-bp deletion that causes deletion of amino acid Gly197 was found in six of the patients, who were all of Jewish origin and who shared the same haplotype for the mutant allele. A mutation of Asp206-->Glu that has been described in the Afrikaner population was found in three patients, two of UK origin and one a recent immigrant from South Africa. In all cases the haplotype of ..." @default.
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- W3140510435 date "1993-01-01" @default.
- W3140510435 modified "2023-09-23" @default.
- W3140510435 title "Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom." @default.
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