A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
T M
TM
Olson
V V
VV
Michels
Z
Z
Urban
K
K
Csiszar
A M
AM
Christiano
D J
DJ
Driscoll
R H
RH
Feldt
C D
CD
Boyd
S N
SN
Thibodeau
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