Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa

Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa

<p>Abstract</p> <p>Background</p> <p>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...

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Bibliographic Details
Main Authors: Brocher Jan, Yin Jun, Fischer Utz, Winkler Christoph
Format: Article
Language:English
Published: BMC 2011-07-01
Series:Molecular Neurodegeneration
Subjects:
Retinitis pigmentosa (RP)
PRPF31
AD5 mutation
SP117 mutation
haploinsufficiency
dominant-negative
rod degeneration
apoptosis
splicing defect
Online Access:http://www.molecularneurodegeneration.com/content/6/1/56

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