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...
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| 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 |
| Zusammenfassung: | 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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| Beschreibung: | Gesehen am 12.12.2022 |
| Beschreibung: | Online Resource |
| ISSN: | 1750-1326 |
| DOI: | 10.1186/1750-1326-6-56 |