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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 amplificati...

Topics

Adult
Apolipoproteins B
Female
Genetic Testing
Heterozygote
Humans
Hyperlipoproteinemia Type II
Male
Middle Aged
Mutation
Oligonucleotide Probes
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, LDL

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1793440-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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