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Phenotype-genotype analyses of clinically diagnosed Malaysian familial hypercholestrolemic patients.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University - 1 Jan 2000

Al-Khateeb Alyaa, Al-Talib Hassanain, Mohamed Mohd S, Yusof Zurkurnai, Zilfalil Bin A

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia and familial defective apo lipoprotein B are genetic disorders caused by defects in the low-density lipoprotein receptor gene and apo lipoprotein B 100 genes, respectively. The clinical phenotype of both diseases is characterized by increased plasma levels of total cholesterol and low density lipoprotein cholesterol, tendinous xanthomata, and premature coronary heart...

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PMID: 23468263

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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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