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Article

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

American journal of human genetics - 8 Aug 2013

Guo Dong-chuan, Regalado Ellen, Casteel Darren E, Santos-Cortez Regie L, Gong Limin, Kim Jeong Joo, Dyack Sarah, Horne S Gabrielle, Chang Guijuan, Jondeau Guillaume, Boileau Catherine, Coselli Joseph S, Li Zhenyu, Leal Suzanne M, Shendure Jay, Rieder Mark J, Bamshad Michael J, Nickerson Deborah A, Kim Choel, Milewicz Dianna M

Abstract excerpt

Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs) can cause inherited thoracic aortic aneurysms and dissections. Exome sequencing of distant relatives affected by thoracic aortic disease and subsequent Sanger sequencing of additional probands with familial t...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23910461
DOI: 10.1016/j.ajhg.2013.06.019
PMCID: PMC3738837

Genes

PRKG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23910461-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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