Article
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
Journal of the American Society of Nephrology : JASN - 1 Jan 2001
Heidet Laurence, Arrondel Christelle, Forestier Lionel, Cohen-Solal Lola, Mollet Geraldine, Gutierrez Bruno, Stavrou Christophoros, Gubler Marie Claire, Antignac Corinne
Abstract excerpt
Mutations in either the COL4A3 or the COL4A4 genes, encoding the alpha3 and alpha4 chains of type IV collagen, are responsible for the autosomal-recessive form of Alport syndrome, a progressive hematuric nephropathy characterized by glomerular basement membrane abnormalities. Reported here are the complete COL4A3 exon-intron structure and a comprehensive screen for mutations of the 52 COL4A3 exons in 41 unrelated...
Topics
- Base Sequence
- Collagen
- DNA Primers
- DNA, Complementary
- Exons
- Female
- Heterozygote
- Humans
- Introns
- Male
- Mutation
- Mutation, Missense
- Nephritis, Hereditary
- Pedigree