Article
A COL4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome.
Kidney international - 1 Apr 1995
Kalluri R, van den Heuvel L P, Smeets H J, Schroder C H, Lemmink H H, Boutaud A, Neilson E G, Hudson B G
Abstract excerpt
The X-linked Alport syndrome is associated with mutations and deletions in COL4A5 gene, one of six genes which constitute the alpha-chains of type IV collagen in basement membranes. The autosomal recessive form of Alport syndrome is characterized by mutations and deletions in the COL4A3 and COL4A4 genes. A fraction of Alport patients who undergo renal transplantation develop anti-glomerular basement membrane...
Topics
- Antibody Specificity
- Basement Membrane
- Child
- Collagen
- Electrophoresis, Gel, Two-Dimensional
- Enzyme-Linked Immunosorbent Assay
- Female
- Fluorescent Antibody Technique
- Gene Deletion
- Glomerulonephritis, Membranous