Elastin - Clinical Significance

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:

    To grasp the full significance of life is the actor’s duty, to interpret it is his problem, and to express it his dedication.
    Marlon Brando (b. 1924)