Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants

Lignende værker

• First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report
  af: Weisschuh, Nicole, et al.
  Udgivet: (2020)
• X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR
  af: Kortüm, Friederike, et al.
  Udgivet: (2021)
• Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
  af: Kloth, Katja, et al.
  Udgivet: (2019)
• Leber’s hereditary optic neuropathy: course of disease in consideration of idebenone treatment and type of mutation
  af: Tonagel, Felix, et al.
  Udgivet: (2020)
• Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
  af: Bonifert, Tobias, et al.
  Udgivet: (2014)