Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing

Antzeko izenburuak

• A novel variant in the CRB1 gene associated with late-onset retinitis pigmentosa in a Chinese family
  nork: Siyan Liu, et al.
  Argitaratua: (2025-06-01)
• A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree
  nork: Cheng, Jingliang, et al.
  Argitaratua: (2019)
• A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation
  nork: Wang, Yun, et al.
  Argitaratua: (2020)
• AAV-CRB2 protects against vision loss in an inducible CRB1 retinitis pigmentosa mouse model
  nork: Buck, Thilo M., et al.
  Argitaratua: (2020)
• Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa
  nork: Yang, Yin, et al.
  Argitaratua: (2016)