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Article

[Study of low density lipoprotein (LDL) receptor mutations, using restriction endonucleases, in familial hypercholesterolemia].

Orvosi hetilap - 5 Jan 1997

Kerepesi M, Császár A, Földi J, Mesterházy J, Romics L

Abstract excerpt

Familial hypercholesterolemia (FH) is an autosomal dominant metabolic disorder caused by different mutations in the low density lipoprotein receptor (LDLR) gene. We analyzed 13 families (23 patients) with FH and 36 subjects with normocholesterolemia by restriction fragment polymorphism (RFLP) using enzymes Xbal, BgIII and PvuII. At the 3' end of LDLR an extra 4.4 kb band has been found by Xbal digestion in one...

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Source

Identifiers

PMID: 9026767

Genes

LDLR

Provenance

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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