PRPF31 alternative splicing and expression in human retina.
about
Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
P2860
PRPF31 alternative splicing and expression in human retina.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
PRPF31 alternative splicing and expression in human retina.
@en
PRPF31 alternative splicing and expression in human retina.
@nl
type
label
PRPF31 alternative splicing and expression in human retina.
@en
PRPF31 alternative splicing and expression in human retina.
@nl
prefLabel
PRPF31 alternative splicing and expression in human retina.
@en
PRPF31 alternative splicing and expression in human retina.
@nl
P2860
P1433
P1476
PRPF31 alternative splicing and expression in human retina.
@en
P2093
Goranka Tanackovic
P2860
P356
10.1080/13816810902744621
P577
2009-06-01T00:00:00Z