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Article

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia.

Atherosclerosis - 1 Dec 1999

Graham C A, McClean E, Ward A J, Beattie E D, Martin S, O'Kane M, Young I S, Nicholls D P

Abstract excerpt

The aim of this study was to develop a mutation screening protocol for familial hypercholesterolaemia (FH) patients and to assess genotype/phenotype effects in terms of pre-treatment lipid profiles and presentation of tendon xanthomata (TX). A total of 158 families with clinical definitions of possible (120) or definite (38) FH were studied using a tiered screening protocol. Mutations were identified in 52...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10559517
DOI: 10.1016/s0021-9150(99)00201-4

Genes

LDLR
EGF

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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