Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)

Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)

Item
http://www.wikidata.org/entity/Q28145835
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsAn atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.HPMV: human protein mutation viewer - relating sequence mutations to protein sequence architecture and function changes.RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosaAnalysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sortingPhenotype in two families with RP3 associated with RPGR mutations.Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodeling.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
P2860

Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)

Item
http://www.wikidata.org/entity/Q28145835
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
@ast
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
@en
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
@nl
type
label
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
@ast
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
@en
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
@nl
prefLabel
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
@ast
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
@en
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)
@en
P2093
P2860
P304
P31
P356
10.1076/OPGE.20.3.161.2278
P407
P433
P478
P577
P698