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ARTICLES

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.

  • M R Johnson
  • M H Polymeropoulos
  • H L Vos
  • R I Ortiz de Luna
  • C A Francomano
  • First Published November 1, 1996
ARTICLES

Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.

  • S D Wijesuriya
  • K Evans
  • M R Jay
  • C Davison
  • B H Weber
  • A C Bird
  • S S Bhattacharya
  • C Y Gregory
  • First Published February 1, 1996
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