Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR

Adv Exp Med Biol. 2012:723:313-20. doi: 10.1007/978-1-4614-0631-0_41.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Calmodulin-Binding Proteins / genetics*
  • Chromosomes, Human, X / genetics*
  • Eye Proteins / genetics*
  • Family Health
  • Genotype
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics
  • Retinitis Pigmentosa / genetics*
  • Severity of Illness Index

Substances

  • Adaptor Proteins, Signal Transducing
  • Calmodulin-Binding Proteins
  • Eye Proteins
  • IQCB1 protein, human
  • RPGR protein, human
  • RPGRIP1L protein, human