Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families

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Kastner S., Thiemann I., Dekomien G., Petrasch-Parwez E., Schreiber S., Akkad D. A., ...Daha Fazla

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, cilt.56, sa.13, ss.8045-8053, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 13
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1167/iovs.15-17473
  • Dergi Adı: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.8045-8053
  • Anahtar Kelimeler: exome sequencing, AGBL5, CCP5, retinitis pigmentosa, CYTOSOLIC CARBOXYPEPTIDASE, MUTATIONS, CILIA, DATABASE, DISEASE, GENOME, IDENTIFICATION, EXPRESSION, DOMINANT, EYS
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

PURPOSE. Retinitis pigmentosa (RP) is the most common inherited retinal disease with high genetic heterogeneity and variable phenotypes. Characteristic symptoms include night blindness and progressive loss of visual field, leading to blindness. Mutations in > 60 genes have been identified to date as causative for RP, and additional candidate genes are assumed.