Article
Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
The Journal of clinical investigation - 1 Mar 1994
Antignac C, Knebelmann B, Drouot L, Gros F, Deschênes G, Hors-Cayla M C, Zhou J, Tryggvason K, Grünfeld J P, Broyer M
Abstract excerpt
The type IV collagen alpha 5 chain (COL4A5) gene of 88 unrelated male patients with X-linked Alport syndrome was tested for major gene rearrangements by Southern blot analysis, using COL4A5 cDNA probes. 14 different deletions were detected, providing a 16% deletion rate in the COL4A5 gene in the...
Topics
- Base Sequence
- Collagen
- Female
- Gene Deletion
- Genetic Linkage
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nephritis, Hereditary
- RNA, Messenger
- X Chromosome