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Article

Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia.

Human genetics - 1 Apr 1990

Daga A, Mattioni T, Balestreri R, Coviello D A, Corte G, Bertolini S

Abstract excerpt

Familial hypercholesterolemia (FH) is an autosomal dominant metabolic disorder caused by several different mutations in the low density lipoprotein (LDL) receptor gene. This large number of different mutations, often undetectable in Southern blotting, makes it impossible directly to diagnose the disease. However, restriction fragment length polymorphisms (RFLPs) can be used to follow the inheritance of the...

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PMID: 1969842
DOI: 10.1007/BF00195811

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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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