A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis

Hum Mol Genet. 1995 Sep;4(9):1677-9. doi: 10.1093/hmg/4.9.1677.

Authors

T M Olson¹, V V Michels, Z Urban, K Csiszar, A M Christiano, D J Driscoll, R H Feldt, C D Boyd, S N Thibodeau

Affiliation

¹ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.

PMID: 8541862
DOI: 10.1093/hmg/4.9.1677

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Aortic Valve Stenosis / genetics*
Base Sequence
DNA, Complementary
Elastin / genetics*
Genotype
Humans
Molecular Sequence Data
Phenotype
Sequence Deletion*

Substances

DNA, Complementary
Elastin