Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

We report mutations in the gene for topoisomerase I-binding RS protein (TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to chromosome 9p21.1 (locus RP31). A positional-cloning approach, together with the use of bioinformatics, identified TOPORS (comprising three exons...

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Detalhes bibliográficos
Main Authors: Chakarova, C, Papaioannou, MG, Khanna, H, Lopez, I, Waseem, N, Shah, A, Theis, T, Friedman, J, Maubaret, C, Bujakowska, K, Veraitch, B, El-Aziz, A, Prescott, D, Parapuram, S, Bickmore, W, Munro, P, Gal, A, Hamel, C, Marigo, V, Ponting, C, Wissinger, B, Zrenner, E, Matter, K, Swaroop, A, Koenekoop, R
Formato: Journal article
Idioma:English
Publicado em: 2007

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