Retinitis pigmentosa 17 is an autosomal dominante retinal dystrophy caused by mutations of the carbonic anhydrases 4 gene (CA4).
Retinitis pigmentosa | ||||
Retinitis pigmentosa 17 | ||||
CA4 | ||||
Retinitis pigmentosa 23 | ||||
Retinitis pigmentosa and erythrocytic microcytosis | ||||
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. |
2. |
Yang Z et al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. |
3. |
Alvarez BV et al. (2007) Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. |
4. |
Bardien S et al. (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. |
5. |
Bardien S et al. (1997) Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes. |
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. |
7. |
den Hollander AI et al. (1999) Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22. |
8. |
OMIM.ORG article Omim 600852 |