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

類似資料

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