Article
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.
Clinical genetics - 1 Nov 1995
Turco A E, Rossetti S, Biasi M O, Rizzoni G, Massella L, Saarinen N H, Renieri A, Pignatti P F, De Marchi M
Abstract excerpt
We have identified a novel missense transition (362G-->A) in exon 3 of the COL4A5 gene in a male patient with late-onset Alport syndrome. We used non-isotopic single strand conformation polymorphism, heteroduplex analysis, and automated DNA sequencing. The mutation changes a conserved glycine at codon 54 for an aspartic acid (Gly54Asp), which abolishes a BstNI site. Using restriction analysis, we identified the...
Topics
- Adolescent
- Age of Onset
- Base Sequence
- DNA
- Exons
- Genes
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Nephritis, Hereditary