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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Detalles 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:	2007

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

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