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Article

Molecular characterization of familial hypercholesterolemia in German and Greek patients.

Human mutation - 1 Mar 2004

Dedoussis George V Z, Genschel Janine, Bochow Bettina, Pitsavos Christos, Skoumas John, Prassa Margarita, Lkhagvasuren Sodnomtsogt, Toutouzas Pavlos, Vogt Anja, Kassner Ursula, Thomas Hans-P, Schmidt Hartmut

Abstract excerpt

We used the denaturing gradient gel electrophoresis (DGGE) method to define mutations in the promoter region, the 18 exons, and their flanking intronic sequences of the low-density lipoprotein (LDL) receptor gene LDLR, causing familial hypercholesterolemia (FH) phenotype in 100 German and in 100 Greek hypercholesterolemic individuals. In addition, we tested all patients for the presence of mutations in codons...

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PMID: 14974088
DOI: 10.1002/humu.9218

Genes

LDLR
APOB

Variants

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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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