A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

Hum Mol Genet. 1993 May;2(5):601-3. doi: 10.1093/hmg/2.5.601.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • DNA / genetics
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Female
  • Fovea Centralis*
  • Humans
  • Intermediate Filament Proteins*
  • Macular Degeneration / genetics*
  • Male
  • Membrane Glycoproteins*
  • Molecular Sequence Data
  • Nerve Tissue Proteins*
  • Pedigree
  • Peripherins
  • Sequence Deletion*

Substances

  • Eye Proteins
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH2 protein, human
  • Peripherins
  • DNA