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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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Detaylı Bibliyografya
Asıl Yazarlar: Datta, Rupak, Waheed, Abdul, Bonapace, Giuseppe, Shah, Gul N., Sly, William S.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 2009
Konular:
Online Erişim: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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