Article
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
American journal of human genetics - 1 Jun 1996
Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti P F, Savi M, Ballabio A, De Marchi M
Abstract excerpt
The COL4A5 gene encodes the alpha5 (type IV) collagen chain and is defective in X-linked Alport syndrome (AS). Here, we report the first systematic analysis of all 51 exons of COL4A5 gene in a series of 201 Italian AS patients. We have previously reported nine major rearrangements, as well as 18...
Topics
- Adult
- Age of Onset
- Amino Acid Sequence
- Base Sequence
- Codon
- Collagen
- DNA Primers
- DNA Transposable Elements
- Exons
- Female
- Frameshift Mutation
- Gene Rearrangement
- Glycine
- Humans