IndraLab

Statements

PRPF8 activates Bloc1s3. 2 / 2
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"For example, a previous study suggested that mutations in PRPF8 may cause RP by disrupting the nuclear association of Brr2p with the U5 snRNP and, consequently, the assembly of the triple snRNP."
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"Herein, we sought to correlate the retinal cell-type-specific disease phenotype with the splicing profile shown by a patient with autosomal recessive RP, caused by a mutation in pre-mRNA splicing factor 8 (PRPF8)."
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