First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report

Những quyển sách tương tự

• Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants
  Bằng: Weisschuh, Nicole, et al.
  Được phát hành: (2021)
• Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
  Bằng: Nicole Weisschuh, et al.
  Được phát hành: (2021-01-01)
• Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis
  Bằng: Millet, Aurélie M. C., et al.
  Được phát hành: (2016)
• Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
  Bằng: Bonifert, Tobias, et al.
  Được phát hành: (2014)
• Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
  Bằng: Votruba, M, et al.
  Được phát hành: (2003)