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Investigation of crystallin genes in familial cataract, and report of two disease associated mutations
  1. K P Burdon,
  2. M G Wirth,
  3. D A Mackey,
  4. I M Russell-Eggitt,
  5. J E Craig,
  6. J E Elder,
  7. J L Dickinson,
  8. M M Sale

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      Aims: Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia.

      Methods: 38 families with autosomal dominant or recessive paediatric cataract were …

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