Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

Am J Hum Genet. 1999 Mar;64(3):897-900. doi: 10.1086/302298.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Eye Proteins*
  • Founder Effect
  • Frameshift Mutation
  • GTP-Binding Proteins
  • Gene Deletion
  • Genetic Linkage
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Membrane Proteins
  • Molecular Sequence Data
  • Newfoundland and Labrador
  • Point Mutation
  • Proteins / genetics*
  • Retinitis Pigmentosa / genetics*
  • Sequence Analysis, DNA
  • X Chromosome* / genetics

Substances

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

Associated data

  • GENBANK/AJ007590