Article
COL4A5 deletions in three patients with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.
Journal of the American Society of Nephrology : JASN - 1 Aug 1994
Ding J, Zhou J, Tryggvason K, Kashtan C E
Abstract excerpt
Mutations in the COL4A5 gene encoding the alpha 5 chain of Type IV collagen were identified in three men with Alport syndrome and posttransplant antiglomerular basement membrane (GBM) nephritis by the use of Southern analysis, polymerase chain reaction amplification of genomic DNA, and reverse tr...
Topics
- Adult
- Autoantibodies
- Autoimmune Diseases
- Base Sequence
- Basement Membrane
- Blotting, Southern
- Collagen
- DNA Probes
- Exons
- Fluorescent Antibody Technique
- Gene Deletion
- Glomerulonephritis
- Humans
- Kidney Glomerulus
- Kidney Transplantation
- Male
- Molecular Sequence Data
- Mutation