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...
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