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Article

High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia.

Journal of medical genetics - 1 Nov 1992

Figueiredo M S, Dos Santos J E, Alberto F L, Zago M A

Abstract excerpt

We analysed the LDL receptor (LDLr) gene in 18 Brazilian patients with familial hypercholesterolaemia (FH) from 10 unrelated families. The combination of a direct search for the Lebanese allele of the LDLr gene by a PCR method and Southern blotting using cDNA probes allowed the identification of the gene defect in six out of 10 families. The Lebanese allele was found in five families and in one family the disease...

Topics

Alleles
Base Sequence
Blotting, Southern
Brazil
DNA
DNA Mutational Analysis
Gene Frequency
Humans
Hyperlipoproteinemia Type II
Lebanon
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Source

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Identifiers

PMID: 1453433
DOI: 10.1136/jmg.29.11.813
PMCID: PMC1016178

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1453433-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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