Article
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Aug 1997
Jefferson J A, Lemmink H H, Hughes A E, Hill C M, Smeets H J, Doherty C C, Maxwell A P
Abstract excerpt
BACKGROUND: Alport syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in young adult life and is often associated with sensorineural deafness and/or ocular abnormalities. The majority of families are X-linked due to mutations in the COL4A5 gene at Xq22. Autosomal f...
Topics
- Adult
- Base Sequence
- Collagen
- DNA Mutational Analysis
- Female
- Genetic Linkage
- Humans
- Kidney
- Male
- Mutation
- Nephritis, Hereditary
- Pedigree
- Polymorphism, Single-Stranded Conformational