Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa

Genetic and physical mapping of the RP17 locus on 17q identified a 3.6-megabase candidate region that includes the gene encoding carbonic anhydrase IV (CA4), a glycosylphosphatidylinositol-anchored protein that is highly expressed in the choriocapillaris of the human eye. By sequencing candidate gen...

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Bibliographische Detailangaben
Hauptverfasser: Rebello, George, Ramesar, Rajkumar, Vorster, Alvera, Roberts, Lisa, Ehrenreich, Liezle, Oppon, Ekow, Gama, Dumisani, Bardien, Soraya, Greenberg, Jacquie, Bonapace, Giuseppe, Waheed, Abdul, Shah, Gul N., Sly, William S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2004
Schlagworte:
Biological Sciences
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC404094/
https://ncbi.nlm.nih.gov/pubmed/15090652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0401529101
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