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Article

Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia.

Atherosclerosis - 1 Aug 1991

Talmud P, Tybjaerg-Hansen A, Bhatnagar D, Mbewu A, Miller J P, Durrington P, Humphries S

Abstract excerpt

We describe a rapid screening procedure to identify known DNA sequence changes in individuals diagnosed as having heterozygous familial hypercholesterolaemia (FH). The screening is made possible by combining a rapid DNA extraction protocol and small scale polymerase chain reaction DNA amplification, followed by oligonucleotide melting or restriction enzyme digestion. We have screened for two different mutations;...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 1793440
DOI: 10.1016/0021-9150(91)90053-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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