A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.
Olson
T M
TM
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Michels
V V
VV
Urban
Z
Z
Csiszar
K
K
Christiano
A M
AM
Driscoll
D J
DJ
Feldt
R H
RH
Boyd
C D
CD
Thibodeau
S N
SN
D001024:Aortic Valve Stenosis / Q000235:genetics*; D001483:Base Sequence; D018076:DNA, Complementary; D004549:Elastin / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D017384:Sequence Deletion
D018076:DNA, Complementary; D004549:Elastin