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Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families

  • Ioanna Bouba
  • , Michael Koptides
  • , Richard Mean
  • , Constandina Eleni Costi
  • , Kyproula Demetriou
  • , Ioannis Georgiou
  • , Alkis Pierides
  • , Konstantinos Siamopoulos
  • , C. Constantinou Deltas
  • Cyprus Institute of Neurology and Genetics
  • University of Ioannina
  • Ministry of Health, Cyprus
  • Cyprus Inst. of Neurol. and Genet.

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Biochemistry, Genetics and Molecular Biology