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

פריטים דומים

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