A novel RP1 mutation demonstrated in a Turkish family with autosomal recessive retinitis pigmentosa

ERGÜN M. A., Citirik M., Bilgili G., Ergun S. G., Polat G.

GENE REPORTS, cilt.11, ss.1-5, 2018 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.genrep.2018.01.003
  • Dergi Adı: GENE REPORTS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.1-5
  • Gazi Üniversitesi Adresli: Evet

Özet

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration. Due to the genetic heterogeneity of RP, 76 different forms have been described till now. Also, autosomal recessive, dominant and X-linked inheritance has also been reported. A major indication for use of whole exome sequencing (WES) in the molecular diagnosis of patients depends on the genetic heterogeneity.