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Article

Mutations in myosin light chain kinase cause familial aortic dissections.

American journal of human genetics - 12 Nov 2010

Wang Li, Guo Dong-chuan, Cao Jiumei, Gong Limin, Kamm Kristine E, Regalado Ellen, Li Li, Shete Sanjay, He Wei-Qi, Zhu Min-Sheng, Offermanns Stephan, Gilchrist Dawna, Elefteriades John, Stull James T, Milewicz Dianna M

Abstract excerpt

Mutations in smooth muscle cell (SMC)-specific isoforms of α-actin and β-myosin heavy chain, two major components of the SMC contractile unit, cause familial thoracic aortic aneurysms leading to acute aortic dissections (FTAAD). To investigate whether mutations in the kinase that controls SMC con...

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Source

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Identifiers

PMID: 21055718
DOI: 10.1016/j.ajhg.2010.10.006
PMCID: PMC2978973

Genes

MYLK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21055718-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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