Genetic and Epidemiological Study of Autosomal Dominant (ADRP) and Autosomal Recessive (ARRP) Retinitis Pigmentosa in Sardinia

  • Maurizio Fossarello
  • Antonina Serra
  • David Mansfield
  • Alan Wright
  • Jorgos Loudianos
  • Mario Pirastu
  • Nicola Orzalesi

Abstract

The recent advances and results in the application of recombinant DNA techniques to family linkage studies has opened new perspectives for the diagnosis and prevention of Retinitis Pigmentosa (RP)(see1 for a review), and has renewed the interest in categorisation of families by recognized Mendelian pattern of inheritance with the aim to localize the genes of the disease on particular chromosomes and eventually to identify the genes and their products.

Keywords

Codon Recombination Anemia Retina Proline 

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Copyright information

© Springer Science+Business Media New York 1993

Authors and Affiliations

  • Maurizio Fossarello
    • 1
  • Antonina Serra
    • 1
  • David Mansfield
    • 2
  • Alan Wright
    • 2
  • Jorgos Loudianos
    • 3
  • Mario Pirastu
    • 3
  • Nicola Orzalesi
    • 4
  1. 1.Department of OphthalmologyUniversity of CagliariCagliariItaly
  2. 2.Western General HospitalMRC Human Genetics UnitEdinburghUK
  3. 3.CNR Institute of Research on Thalassemias and Mediterranean AnemiasCagliariItaly
  4. 4.Department of OphthalmologyUniversity of Milan, “San Paolo” Biomedical InstituteMilanItaly

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