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Article

Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?

Clinical chemistry - 1 Jun 2006

Blesa Sebastian, Garcia-Garcia Ana Barbara, Martinez-Hervas Sergio, Mansego Maria Luisa, Gonzalez-Albert Veronica, Ascaso Juan Francisco, Carmena Rafael, Real Jose Tomas, Chaves Felipe Javier

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a frequent form of autosomal-dominant hypercholesterolemia that predisposes to premature coronary atherosclerosis. FH is caused by sequence variations in the gene coding for the LDL receptor (LDLR). This gene has a wide spectrum of sequence variations, and genetic diagnosis can be performed by 2 strategies. METHODS: Point variations and large rearrangements were...

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Source

Identifiers

PMID: 16627557
DOI: 10.1373/clinchem.2006.067645

Genes

LDLR

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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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