Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene

J Med Genet. 2002 Apr;39(4):284-5. doi: 10.1136/jmg.39.4.284.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Alternative Splicing / genetics*
  • Carrier Proteins / genetics*
  • Child
  • Exons / genetics*
  • Eye Proteins*
  • Female
  • Genes, Dominant / genetics*
  • Genetic Carrier Screening
  • Genetic Linkage / genetics*
  • Genetic Testing
  • Humans
  • Male
  • Open Reading Frames / genetics*
  • Pedigree
  • Retinitis Pigmentosa / genetics*
  • Sequence Deletion*
  • X Chromosome / genetics*

Substances

  • Carrier Proteins
  • Eye Proteins
  • RPGR protein, human