An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.
about
ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.Mistrafficking of prenylated proteins causes retinitis pigmentosa 2.RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosaDeep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapiesIntellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
P2860
Q33227686-34979774-D3C4-44E5-9024-C09F8DC130E0Q34442266-F6877FB1-8362-4AF6-8981-3D075138CD1EQ35576525-6C4ABD67-F7F7-4626-8AFA-94194AC5075AQ36083346-2FC29838-18D3-4DF3-B26A-3DE87634BFD5Q36122430-CA1E254F-3DDC-4141-A6CB-361BE759E041Q37588148-D2D7467E-9578-4BA9-8FAD-208037DC5BDBQ41342635-9CACC1E2-9F5F-48D8-937B-F435382565E3Q47073229-434E6CF7-E25F-4F86-B214-79DCC8F30DC4
P2860
An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
An atypical phenotype of macul ...... by a mutation in the RP2 gene.
@ast
An atypical phenotype of macul ...... by a mutation in the RP2 gene.
@en
type
label
An atypical phenotype of macul ...... by a mutation in the RP2 gene.
@ast
An atypical phenotype of macul ...... by a mutation in the RP2 gene.
@en
prefLabel
An atypical phenotype of macul ...... by a mutation in the RP2 gene.
@ast
An atypical phenotype of macul ...... by a mutation in the RP2 gene.
@en
P2093
P2860
P356
P1476
An atypical phenotype of macul ...... by a mutation in the RP2 gene.
@en
P2093
A J Hardcastle
A R Webster
F W Fitzke
G E Holder
J P Chapple
M E Cheetham
N D Ebenezer
S A Jenkins
P2860
P304
P356
10.1136/BJO.2003.027979
P407
P577
2004-04-01T00:00:00Z