Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa

Hum Mutat. 2000 Jun;15(6):584. doi: 10.1002/1098-1004(200006)15:6<584::AID-HUMU26>3.0.CO;2-O.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing
  • Carrier Proteins / genetics*
  • Child
  • Codon, Nonsense / genetics
  • Eye Proteins*
  • Glutamic Acid / genetics
  • Humans
  • Mutation / genetics*
  • Retinitis Pigmentosa / enzymology
  • Retinitis Pigmentosa / genetics*
  • Sequence Deletion
  • X Chromosome / genetics

Substances

  • Carrier Proteins
  • Codon, Nonsense
  • Eye Proteins
  • RPGR protein, human
  • Glutamic Acid