Efficient detection of alport syndromeCOL4a5 mutations with multiplex genomic PCR-SSCP

Detection of mutations in COL4A5 in pati

Detection of mutations in COL4A5 in patients with Alport Syndrome

✍ Kate E. Plant; Peter M. Green; David Vetrie; Frances A. Flinter 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 322 KB 👁 2 views

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