Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

Παρόμοια τεκμήρια

• Importance of molecular testing in dominant optic atrophy
  ανά: Patel, N, κ.ά.
  Έκδοση: (2002)
• Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
  ανά: Almind, Gitte J, κ.ά.
  Έκδοση: (2011)
• Haploinsufficiency is the cause of dominant optic atrophy
  Έκδοση: (2002)
• Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency
  ανά: Kushnareva, Y, κ.ά.
  Έκδοση: (2016)
• Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
  ανά: Votruba, M, κ.ά.
  Έκδοση: (2003)