The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

@article{Curran1993TheEG,
  title={The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis},
  author={M. Curran and D. Atkinson and A. Ewart and C. Morris and M. Keating},
  journal={Cell},
  year={1993},
  volume={73},
  pages={159-168}
}
To identify genes involved in vascular disease, we investigated patients with supravalvular aortic stenosis (SVAS), an inherited vascular disorder that causes hemodynamically significant narrowing of large elastic arteries. Pulsed-field gel and Southern analyses showed that a translocation near the elastin gene cosegregated with SVAS in one family. DNA sequence analyses demonstrated that the translocation disrupted the elastin gene and localized the breakpoint to exon 28. Taken together with… Expand
Elastin and vascular disease.
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Elastin: mutational spectrum in supravalvular aortic stenosis
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
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