Polymorphic variations in peripherin-RDS gene in the Spanish population
Trujillo, M.J.; Ayuso, C.; Robledo, M.; Sandoval, B.G.; Ramos, C.; Benitez, J.
Annales de Genetique 38(4): 225-227
1995
ISSN/ISBN: 0003-3995 PMID: 8629810 Document Number: 439756
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.
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