Key result
Point mutations in the elastin (ELN) gene that are predicted to lead to premature chain termination were identified in some patients with isolated supravalvular aortic stenosis.
Population
Patients with isolated supravalvular aortic stenosis (SVAS) and Williams syndrome
Design
Other
Authors
Loading...
May support ELN screening in isolated supravalvular aortic stenosis; leaves open broader phenotypic spectrum and clinical adoption.
The elucidation of the ELN gene's genomic structure enables extensive mutation screening for patients with supravalvular aortic stenosis and related conditions.
May Tassabehji (1997) studied Supravalvular aortic stenosis. Elastin (ELN) gene point mutations was evaluated on Identification of point mutations leading to premature chain termination. Point mutations in the elastin (ELN) gene that are predicted to lead to premature chain termination were identified in some patients with isolated supravalvular aortic stenosis.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: