Importance of molecular testing in dominant optic atrophy

Eitemau Tebyg

• Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease
  gan: Marchbank, N, et al.
  Cyhoeddwyd: (2002)
• Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.
  gan: Votruba, M, et al.
  Cyhoeddwyd: (1998)
• Dominant optic atrophy
  gan: Lenaers, Guy, et al.
  Cyhoeddwyd: (2012)
• DOMINANTLY INHERITED OPTIC ATROPHY
  gan: Joseph, Ruby, et al.
  Cyhoeddwyd: (1958)
• Haploinsufficiency is the cause of dominant optic atrophy
  Cyhoeddwyd: (2002)