Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene

@article{Urbn2001SupravalvularAS,
  title={Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene},
  author={Zsolt Urb{\'a}n and Jun Zhang and Elaine C. Davis and Gregg K. Maeda and Anil Kumar and Heather J Stalker and John William Belmont and Charles D. Boyd and Margaret R. Wallace},
  journal={Human Genetics},
  year={2001},
  volume={109},
  pages={512-520}
}
We have identified two elastin gene (ELN) mutations located in cis in two related families with supravalvular aortic stenosis (SVAS). These mutations included an in-frame duplication in exon 18 (1034–1057dup) and a single base substitution in exon 26 (1829G→A) predicted to result in the amino acid substitution R610Q. Haplotype analysis in one of the families identified an individual with a recombination between exon 18 and 26 of the elastin gene. This individual was unaffected and carried the… CONTINUE READING
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