Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

Am J Hum Genet. 1999 Apr;64(4):1210-5. doi: 10.1086/302325.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Exons / genetics
  • Eye Proteins*
  • Female
  • GTP-Binding Proteins
  • Genetic Heterogeneity
  • Genetic Linkage / genetics*
  • Haplotypes / genetics
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Membrane Proteins
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*
  • Retinitis Pigmentosa / genetics*
  • X Chromosome / genetics*

Substances

  • Eye Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Proteins
  • RP2 protein, human
  • GTP-Binding Proteins