| pubmed-article:10627133 | pubmed:abstractText | Among 43 unrelated Spanish patients affected with autosomal dominant (AD) photoreceptor disorders a study of RDS-peripherin gene was performed. We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving us a proportion of about 20% of RDS mutations in autosomal dominant Spanish macular dystrophies and 3% in ADRP. | lld:pubmed |
