Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.
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Mar 3, 2009
Pathogenesis of RP associated with apoptosis-inducing mutations in CA4
Apoptosis induced by the CA4 mutants could be prevented, at least partially, by treating the cells with dorzolamide, a CA inhibitor.
Jan 14, 2005
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration
Abstract Retina and retinal pigment epithelium (RPE) belong to the metabolically most active tissues in the human body. Efficient removal...
Aug 17, 2004
Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17
Giuseppe Bonapace, Abdul Waheed, Gul N Shah, William S Sly | Proc National Academy Science  | 2004 Aug 17 | Vol. 101, Issue 33 | 12300-5...
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