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Article

Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in Greek population.

Clinical biochemistry - 1 Mar 2008

Glynou Kyriaki, Laios Eleftheria, Drogari Euridiki, Tsaoussis Vassilis

Abstract excerpt

OBJECTIVES: Familial hypercholesterolemia (FH) is caused by mutations in the LDL receptor (LDLR) gene. We report the application of a universal method with high allele discrimination properties to the simultaneous genotyping of 7 LDLR mutations in Greeks, in dry-reagent format. DESIGN AND METHODS: We genotyped mutations C858A, C939A, G1285A, T1352C, G1646A, G1775A, C/T81G. Unpurified amplicons from a multiplex...

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Source

Identifiers

PMID: 18206115
DOI: 10.1016/j.clinbiochem.2007.12.016

Genes

LDLR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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