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Article

Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia.

Human genetics - 1 Jun 1995

Leren T P, Sundvold H, Rødningen O K, Tonstad S, Solberg K, Ose L, Berg K

Abstract excerpt

Familial hypercholesterolemia (FH) is caused by defective low density lipoprotein (LDL) receptors and is characterized by hypercholesterolemia and premature coronary heart disease. Two strategies can be used to identify the mutation in the LDL receptor gene underlying FH. One strategy is to search for novel mutations by DNA sequencing with or without prior mutation screening. The other strategy is to screen for...

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PMID: 7789953
DOI: 10.1007/BF00209485

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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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