Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa
Retinitis pigmentosa (RP) is an inherited eye disease characterized by the progressive degeneration of rod photoreceptor cells. Mutations in pre-mRNA splicing factors including PRPF31 have been identified as cause for RP, raising the question how mutations in general factors lead to tissue specific...
Gespeichert in:
| Hauptverfasser: | , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
30 July 2011
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| In: |
Molecular neurodegeneration
Year: 2011, Jahrgang: 6, Pages: 1-17 |
| ISSN: | 1750-1326 |
| DOI: | 10.1186/1750-1326-6-56 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/1750-1326-6-56
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| Verfasserangaben: | Jun Yin, Jan Brocher, Utz Fischer and Christoph Winkler |
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| 520 | |a Retinitis pigmentosa (RP) is an inherited eye disease characterized by the progressive degeneration of rod photoreceptor cells. Mutations in pre-mRNA splicing factors including PRPF31 have been identified as cause for RP, raising the question how mutations in general factors lead to tissue specific defects. | ||
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| 650 | 4 | |a Retinitis pigmentosa (RP) | |
| 650 | 4 | |a rod degeneration | |
| 650 | 4 | |a SP117 mutation | |
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