Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Retinitis pigmentosa is a hereditary retinal dystrophy which is characterized by a preogressive loss in photoreceptors. Variable forms of inheritanc are associated with this disease (dominant, recessive, X-linked, mitochondrial). It is a common symptom in various ciliopathies.
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Yang Z et al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
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Alvarez BV et al. (2007) Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
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Hardcastle AJ et al. (2000) Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
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Bardien-Kruger S et al. (1999) Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin.
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Orphanet article Orphanet ID 791
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OMIM.ORG article Omim 268000
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Wikipedia article Wikipedia EN (Retinitis_pigmentosa)
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