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Research Article
Haplotype analysis in autosomal dominant polycystic kidney disease.
  1. S E Pound,
  2. S Thomas,
  3. A Snarey,
  4. A M Macnicol,
  5. M L Watson,
  6. P M Pignatelli,
  7. A M Frischauf,
  8. P C Harris,
  9. A F Wright
  1. MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.

    Abstract

    Haplotype analysis was performed in 35 autosomal dominant polycystic kidney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. The identification of recombinants close to the PKD1 gene on chromosome 16p indicates that PKD1 lies between CMM65 distally and 26-6 proximally. In addition, three unlinked (PKD2) families and two families with potential new mutation were identified.

    https://doi.org/10.1136/jmg.32.3.208

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