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Polymorphic variations in peripherin-RDS gene in the Spanish population.

Abstract
The authors report a study of polymorphisms in the peripherin-RDS gene in 21 Spanish families affected with Autosomal Dominant Retinitis Pigmentosa and 56 unrelated normal individuals. We found 3 variants in first exon and nine variants in the third exon in an SSCP analysis, all corresponding to different previously described polymorphisms.
AuthorsM J Trujillo, C Ayuso, M Robledo, B G Sandoval, C Ramos, J Benitez
JournalAnnales de genetique (Ann Genet) Vol. 38 Issue 4 Pg. 225-7 ( 1995) ISSN: 0003-3995 [Print] Netherlands
PMID8629810 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA Primers
  • Eye Proteins
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • PRPH2 protein, human
  • Peripherins
Topics
  • Base Sequence
  • DNA Primers (chemistry)
  • Eye Proteins (genetics)
  • Gene Frequency
  • Genes, Dominant
  • Heterozygote
  • Humans
  • Intermediate Filament Proteins (genetics)
  • Ireland
  • Membrane Glycoproteins
  • Molecular Sequence Data
  • Nerve Tissue Proteins
  • Peripherins
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Retinitis Pigmentosa (genetics)
  • Spain

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