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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Linkage testing using Affymetrix 6.0 SNP Arrays mapped the disease locus in TCD-G, an Irish family with autosomal dominant retinitis pigmentosa (adRP), to an 8.8 Mb region on 1p31. Of 50 known genes in the region, 11 candidates, including RPE65 and PDE4B, were sequenced using di-deoxy capillary elec...

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Dettagli Bibliografici
Autori principali: Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence C S, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren, Erica J, Allman, Denis, Millington-Ward, Sophia, Palfi, Arpad, McKee, Alex, Blanton, Susan H, Slifer, Susan, Konidari, Ioanna, Farrar, G Jane, Daiger, Stephen P, Humphries, Peter
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3190249/
https://ncbi.nlm.nih.gov/pubmed/21654732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.86
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