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Article

Familial hypercholesterolemia study in Sardinia using 6 LDLR polymorphic markers based on PCR.

American journal of medical genetics - 6 Mar 2000

Orrù S, Pintor S, Loizedda A, Giuressi E, Murru R, Casula M, Carcassi C, Deiana L, Contu L

Abstract excerpt

Twenty-two Sardinian families with multiple cases of hypercholesterolemia were investigated with six polymorphic markers of the low-density lipoprotein receptor (LDLR) gene that could be quickly analyzed by PCR-based methods. Five single nucleotide polymorphisms (SNP) in exons 8, 10, 13, 15, and 18 and a microsatellite marker flanking the 3' end of the LDLR gene were used to define the haplotypes at the LDLR...

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

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Share to Polymorphism, Restriction Fragment Length

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 10751086
DOI: 10.1002/(sici)1096-8628(20000306)91:1<34::aid-ajmg6>3.3.co;2-k

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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