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Article

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Human mutation - 1 Aug 2015

Proost Dorien, Vandeweyer Geert, Meester Josephina A N, Salemink Simone, Kempers Marlies, Ingram Christie, Peeters Nils, Saenen Johan, Vrints Christiaan, Lacro Ronald V, Roden Dan, Wuyts Wim, Dietz Harry C, Mortier Geert, Loeys Bart L, Van Laer Lut

Abstract excerpt

At least 14 causative genes have been identified for both syndromic and nonsyndromic forms of thoracic aortic aneurysm/dissection (TAA), an important cause of death in the industrialized world. Molecular confirmation of the diagnosis is increasingly important for gene-tailored patient management...

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Source

Identifiers

PMID: 25907466
DOI: 10.1002/humu.22802

Genes

FBN1
TGFBR1
ACTA2
MYLK
NOTCH1
SMAD3
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25907466-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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