The genetic aetiology of retinal degeneration in children in Finland – new founder mutations identified

Kristiina Avela, Riitta Salonen-Kajander, Arja Laitinen, Simon Ramsden, Stephanie Barton, Sirkka-Liisa Rudanko

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalActa ophthalmologica
Volume97
Issue number8
Pages (from-to)805-814
Number of pages10
ISSN0001-639X
DOIs
Publication statusPublished - Dec 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 3125 Otorhinolaryngology, ophthalmology
  • BLINDNESS
  • FOUNDER MUTATION
  • molecular genetic aetiology
  • Next-generation sequencing
  • paediatric retinal degeneration
  • VISUAL IMPAIRMENT
  • blindness
  • founder mutation
  • molecular genetic aetiology
  • next-generation sequencing
  • paediatric retinal degeneration
  • visual impairment
  • RETINITIS-PIGMENTOSA
  • VISUAL IMPAIRMENT
  • PREVALENCE
  • PHENOTYPE
  • RETINOSCHISIS
  • TULP1

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