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An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q 总被引:5,自引:2,他引:5
Bardienb Soraya; Ebenezer Neil; Greenberg Jacquie; Inglehearn Chris F.; Bartmann Lecia; Goliath Rene; Beighton Peter; Ramesar Rajkumar; Bhattacharya Shomi S. 《Human molecular genetics》1995,4(8):1459-1462
Retinitis pigmentosa is one of the most common causes of severevisual handicap in middle to late life. Prior to this report,seven loci had previously been mapped for the autosomal dominantform of this disorder (adRP). We now report the identificationof a novel adRP locus on chromosome 17q. To map the new locus,we performed linkage analysis with microsatellite markers ina large South African kindred. After exclusion of 13 RP candidategene loci (including rhodopsin and peripherin-RDS), we obtainedsignificant positive lod scores at zero recombination fraction( 相似文献
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