Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs

Mutations in genes associated with the U4/U6-U5 small nuclear ribonucleoprotein (snRNP) complex of the spliceosome are implicated in autosomal-dominant retinitis pigmentosa (adRP), a group of progressive retinal degenerative disorders leading to visual impairment, loss of visual field, and even blin...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Zhao, Chen, Bellur, Deepti L., Lu, Shasha, Zhao, Feng, Grassi, Michael A., Bowne, Sara J., Sullivan, Lori S., Daiger, Stephen P., Chen, Li Jia, Pang, Chi Pui, Zhao, Kanxing, Staley, Jonathan P., Larsson, Catharina
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2009
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2775825/
https://ncbi.nlm.nih.gov/pubmed/19878916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.09.020
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