Retinitis pigmentosa 17 is an autosomal dominante retinal dystrophy caused by mutations of the carbonic anhydrases 4 gene (CA4).
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| 1. |
Rebello G et al. (2004) Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
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| 2. |
Yang Z et al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
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| 3. |
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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| 4. |
Bardien S et al. (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.
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| 5. |
Bardien S et al. (1997) Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes.
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| 6. |
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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| 7. |
den Hollander AI et al. (1999) Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.
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| 8. |
OMIM.ORG article Omim 600852
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