Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts.
Urb?n Z, Michels VV, Thibodeau SN, Donis-Keller H, Csisz?r K, Boyd CD. Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum Genet. 1999 Feb; 104(2):135-42.