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Article

Identification of a 76-year-old patient with compound heterozygous familial hypercholesterolemia by haplotype analysis of the LDL receptor gene.

Klinische Wochenschrift - 15 Nov 1991

Fischer H J, Schuster H, Keller C, Wolfram G, Zöllner N

Abstract excerpt

In a large family with clinical characteristics of heterozygous familial hypercholesterolemia (FH) seven restriction fragment length polymorphisms (RFLP) were used to determine low-density-lipoprotein receptor (LDLR) gene haplotypes. Following the inheritance of the LDL receptor genes characterized by their seven RFLP haplotypes, two different alleles were found to cosegregate with elevated cholesterol levels...

Topics

Aged
Alleles
DNA
Genetic Carrier Screening
Genetic Linkage
Haplotypes
Humans
Hyperlipoproteinemia Type II
Male
Pedigree
Phenotype
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Restriction Fragment Length

Receptors, LDL

Source

Identifiers

PMID: 1685207
DOI: 10.1007/BF01649457

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1685207-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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