Clinical Significance
Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Other associated defects in elastin include Marfan's Syndrome and emphysema caused by α1-antitrypsin deficiency.
Read more about this topic: Elastin
Famous quotes containing the word significance:
“History is the interpretation of the significance that the past has for us.”
—Johan Huizinga (1872–1945)