Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a nonconsanguineous Chinese family

Arch Ophthalmol. 2009 Aug;127(8):1077-8. doi: 10.1001/archophthalmol.2009.207.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Asian People / genetics
  • Consanguinity
  • Exons / genetics
  • Genes, Recessive
  • Heterozygote*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Polymerase Chain Reaction
  • Retinitis Pigmentosa / genetics*
  • Young Adult

Substances

  • Phosphotransferases (Alcohol Group Acceptor)
  • ceramide kinase