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Article

Splice-site mutations in atherosclerosis candidate genes: relating individual information to phenotype.

Circulation - 17 Aug 1999

von Kodolitsch Y, Pyeritz R E, Rogan P K

Abstract excerpt

BACKGROUND: Nucleotide variants in several genes for lipid and methionine metabolism influence the risk of premature atherosclerosis. Ten percent of single nucleotide substitutions in these genes involve mRNA splice sites. The effects of some of these changes on splicing and on phenotypic severity are not inherently obvious. METHODS AND RESULTS: Using an information theory-based model, we measured the individual...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10449689
DOI: 10.1161/01.cir.100.7.693

Genes

APOB
APOE
CBS
CETP
LCAT
LDLR
LIPA
LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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