RFLPs of the LDL-receptor gene: their use in the diagnosis of FH and in evaluation of different levels of gene expression on normal subjects.

doi:10.1007/BF00145345

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Article

RFLPs of the LDL-receptor gene: their use in the diagnosis of FH and in evaluation of different levels of gene expression on normal subjects.

European journal of epidemiology - 1 May 1992

Bertolini S, Coviello D A, Masturzo P, Zucchetto E, Elicio N, Balestreri R, Orecchini G, Calandra S, Humphries S

Abstract excerpt

The usefulness of the RFLPs of the LDL-receptor gene in early diagnosis of Familial Hypercholesterolemia (FH) was investigated in 122 FH-families. Four RFLPs, produced by digestion with the enzymes PvuII, ApaLI and AvaII/XbaI were able to detect the affected gene and to follow the inheritance of...

Topics

Adult
Aged
Alleles
Autoradiography
Cholesterol, LDL
Female
Gene Expression Regulation
Genotype
Humans
Hyperlipoproteinemia Type II
Male
Middle Aged
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Receptors, LDL

Source

Open in PubMed

Identifiers

PMID: 1354622
DOI: 10.1007/BF00145345

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1354622-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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