Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa

PURPOSE: The purpose of this project was to determine if mutations, including large insertions or deletions, in the recently identified RP31 gene topoisomerase I-binding arginine-serine rich (RS) protein (TOPORS), cause an appreciable fraction of autosomal dominant retinitis pigmentosa (adRP). METHO...

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Hlavní autoři: Bowne, Sara J., Sullivan, Lori. S., Gire, Anisa I., Birch, David G., Hughbanks-Wheaton, Dianna, Heckenlively, John R., Daiger, Stephen P.
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2008
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2391085/
https://ncbi.nlm.nih.gov/pubmed/18509552
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