Retinitis pigmentosa 17
Die Retinitis pigmentosa 17 ist eine autosomal dominante Augen-Erkrankung, die durch Mutationen im Carboanhydrase-Gen (CA4) hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
Bardien S et. al. (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. [^] |
| 2. |
Bardien S et. al. (1997) Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes. [^] |
| 3. |
Rebello G et. al. (2004) Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. [^] |
| 4. |
Yang Z et. al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. [^] |
| 5. |
Alvarez BV et. al. (2007) Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. [^] |
| 6. |
den Hollander AI et. al. (1999) Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22. [^] |
| 7. |
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. [^] |
