Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Retinitis pigmentosa 17

Retinitis pigmentosa 17 is an autosomal dominante retinal dystrophy caused by mutations of the carbonic anhydrases 4 gene (CA4).

Systematic

Retinitis pigmentosa
Retinitis pigmentosa 17
CA4
Retinitis pigmentosa 23
Retinitis pigmentosa and erythrocytic microcytosis

References:

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.

external link
2.

Yang Z et al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

external link
3.

Alvarez BV et al. (2007) Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.

external link
4.

Bardien S et al. (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.

external link
5.

Bardien S et al. (1997) Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes.

external link
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.

external link
7.

den Hollander AI et al. (1999) Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.

external link
8.

OMIM.ORG article

Omim 600852 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits