Mutational analysis ofCOL4A5gene in Korean Alport syndrome
β Scribed by H. I. Cheong; H. W. Park; I. S. Ha; Y. Choi
- Book ID
- 106162345
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 57 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0931-041X
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Alport syndrome (AS) is a hereditary kidney disorder, mainly caused by mutations in the Xchromosomal gene (COL4A5) encoding the type IV collagen Ξ± Ξ±5 chain. In this study, detection of COL4A5 mutations was performed in 17 Finnish Alport syndrome families. Regions around the 51 previously known exons
Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutation