Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

@article{Barker2001EfficientDO,
  title={Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.},
  author={David F. Barker and Joyce C. Denison and Curtis L. Atkin and Martin C. Gregory},
  journal={American journal of medical genetics},
  year={2001},
  volume={98 2},
  pages={148-60}
}
We have performed effective mutation screening of COL4A5 with a new method of direct, multiplex genomic amplification that employs a single buffer condition and PCR profile. Application of the method to a consecutive series of 46 United States patients with diverse indications of Alport syndrome resulted in detection of mutations in 31 cases and of five previously unreported polymorphisms. With a correction for the presence of cases that are not likely to be due to changes at the COL4A5 locus… CONTINUE READING

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