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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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2011
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Article
Länkar: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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