Article
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
American journal of human genetics - 1 Jun 1995
Francke U, Berg M A, Tynan K, Brenn T, Liu W, Aoyama T, Gasner C, Miller D C, Furthmayr H
Abstract excerpt
Ascending aortic disease, ranging from mild aortic root enlargement to aneurysm and/or dissection, has been identified in 10 individuals of a kindred, none of whom had classical Marfan syndrome (MFS). Single-strand conformation analysis of the entire fibrillin-1 (FBN1) cDNA of an affected family member revealed a G-to-A transition at nucleotide 3379, predicting a Gly1127Ser substitution. The glycine in this...
Topics
- Adult
- Aged
- Amino Acid Sequence
- Aortic Dissection
- Aortic Aneurysm
- Base Sequence
- Epidermal Growth Factor
- Female
- Fibrillin-1
- Fibrillins
- Haplotypes