Article
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
American journal of human genetics - 1 Nov 1998
Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grünfeld J P, Palcoux J B, Gubler M C, Antignac C
Abstract excerpt
Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively. To date, mutation screening in the two genes has been hampered by the lack of genomic structure information. We report here the...
Topics
- Alanine
- Amino Acid Substitution
- Base Sequence
- Basement Membrane
- Collagen
- DNA Primers
- Exons
- Female
- Genes, Recessive
- Genetic Carrier Screening
- Glycine
- Homozygote
- Humans
- Introns