Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

@article{Tassabehji1997ElastinGS,
  title={Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.},
  author={M. Tassabehji and Kay.A. Metcalfe and Dian Donnai and Jane Hurst and William Reardon and Michael Burch and Andrew P. Read},
  journal={Human molecular genetics},
  year={1997},
  volume={6 7},
  pages={1029-36}
}
We describe the complete exon-intron structure of the human elastin (ELN) gene located at chromosome 7q11.23. There are 34 exons occupying approximately 47 kb of genomic DNA. All exons are in-frame, allowing exon skipping without disrupting the reading frame. Microsatellites are located in introns 17 and 18. Deletions of all or large parts of the ELN gene have been previously reported in two patients with supravalvular aortic stenosis (SVAS), and SVAS is also a frequent feature of Williams… CONTINUE READING

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Alterations in elastin and cardiovascular malformations of Wiliams syndrome

  • M. Rabinovitch
  • th International Professional Conference on…
  • 1996
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