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Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV

Missense mutations in the carbonic anhydrase IV (CA IV) gene have been identified in patients with an autosomal dominant form of retinitis pigmentosa (RP17). We used two transient expression systems to investigate the molecular mechanism by which the newly identified CA IV mutations, R69H and R219S,...

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Bibliographische Detailangaben
Hauptverfasser: Datta, Rupak, Waheed, Abdul, Bonapace, Giuseppe, Shah, Gul N., Sly, William S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2009
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2651274/
https://ncbi.nlm.nih.gov/pubmed/19211803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0813178106
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