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...

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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2009
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Article
Online toegang: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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