Article
Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
Annals of human genetics - 1 Jul 2008
Barragán I, Abd El-Aziz M M, Borrego S, El-Ashry M F, O'Driscoll C, Bhattacharya S S, Antiñolo G
Abstract excerpt
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies, characterised by rod photoreceptor cell degeneration with autosomal recessive RP (arRP) as the commonest form worldwide. To date, a total of 26 loci have been reported for arRP, each having a prevalence of 1-5%, except for the RP25 locus which was identified as the genetic cause of 14% of arRP cases in Spain. In...
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