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Article

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

Annals of clinical biochemistry - 1 Jan 2010

Whittall R A, Scartezini M, Li Kawah, Hubbart C, Reiner Z, Abraha A, Neil H A W, Dedoussis G, Humphries S E

Abstract excerpt

AIMS: Current screening methods, such as single strand conformational polymorphism (SSCP) and denaturing high performance liquid chromatography (dHPLC) that are used for detecting mutations in familial hypercholesterolaemia (FH) subjects are time consuming, costly and only 80-90% sensitive. Here we have tested high-resolution melt (HRM) analysis for mutation detection using the Rotor-Gene(6000) realtime rotary...

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Source

Identifiers

PMID: 19837725
DOI: 10.1258/acb.2009.009076

Genes

APOB
PCSK9

Variants

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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