Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
Page 1 of 1
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-16144. Epub 2013 Sep 16.
Similar topics
» Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants
» Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa
» Retinitis Pigmentosa Gene, C2ORF71
» Knock-down of the Zebrafish Orthologue of the Retinitis Pigmentosa 2 (RP2) Gene Results in Retinal Degeneration
» Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria
» Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa
» Retinitis Pigmentosa Gene, C2ORF71
» Knock-down of the Zebrafish Orthologue of the Retinitis Pigmentosa 2 (RP2) Gene Results in Retinal Degeneration
» Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum