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Article

Mutation in ST6GALNAC5 identified in family with coronary artery disease.

Scientific reports - 8 Jan 2014

InanlooRahatloo Kolsoum, Parsa Amir Farhang Zand, Huse Klaus, Rasooli Paniz, Davaran Saeid, Platzer Matthias, Kramer Marcel, Fan Jian-Bing, Turk Casey, Amini Sasan, Steemers Frank, Gunderson Kevin, Ronaghi Mostafa, Elahi Elahe

Abstract excerpt

We aimed to identify the genetic cause of coronary artery disease (CAD) in an Iranian pedigree. Genetic linkage analysis identified three loci with an LOD score of 2.2. Twelve sequence variations identified by exome sequencing were tested for segregation with disease. A p.Val99Met causing mutatio...

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Identifiers

PMID: 24399302
DOI: 10.1038/srep03595
PMCID: PMC3884232

Genes

CAD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24399302-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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