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elastin

7q11.23

Tuesday 16 September 2003

Pathology

- frameshift mutations in the elastin gene in autosomal dominant cutis laxa
- mutations in supravalvular aortic stenosis

References

- Brooke BS, Bayes-Genis A, Li DY. New insights into elastin and vascular disease. Trends Cardiovasc Med. 2003 Jul;13(5):176-81. PMID: 12837579