Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

פריטים דומים

• Novel compound heterozygous missense variants (c.G955A and c.A1822C) of CACNA2D4 likely causing autosomal recessive retinitis pigmentosa in a Chinese patient
  מאת: Cheng, Jingliang, et al.
  יצא לאור: (2021)
• Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient
  מאת: Zhang, Lianmei, et al.
  יצא לאור: (2020)
• Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA
  מאת: Fu, Jiewen, et al.
  יצא לאור: (2020)
• A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree
  מאת: Cheng, Jingliang, et al.
  יצא לאור: (2019)
• A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa
  מאת: Fu, Jiewen, et al.
  יצא לאור: (2019)