Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa
about
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaA comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsClinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genesRecent advances in the molecular basis of inherited photoreceptor degeneration.The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.Structural and functional characteristics in carriers of X-linked retinitis pigmentosa with a tapetal-like reflex.Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosaAn atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaRP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosaRPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Genetic isolates in ophthalmic diseases.Advances in gene therapy technologies to treat retinitis pigmentosa.Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Photoreceptor Cilia and Retinal Ciliopathies.Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.
P2860
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P2860
Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին 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
Protein-truncation mutations i ...... X-linked retinitis pigmentosa
@ast
Protein-truncation mutations i ...... X-linked retinitis pigmentosa
@en
Protein-truncation mutations i ...... X-linked retinitis pigmentosa
@nl
type
label
Protein-truncation mutations i ...... X-linked retinitis pigmentosa
@ast
Protein-truncation mutations i ...... X-linked retinitis pigmentosa
@en
Protein-truncation mutations i ...... X-linked retinitis pigmentosa
@nl
prefLabel
Protein-truncation mutations i ...... X-linked retinitis pigmentosa
@ast
Protein-truncation mutations i ...... X-linked retinitis pigmentosa
@en
Protein-truncation mutations i ...... X-linked retinitis pigmentosa
@nl
P2093
P50
P3181
P356
P1476
Protein-truncation mutations i ...... X-linked retinitis pigmentosa
@en
P2093
P A Sieving
S Hiriyanna
P304
P3181
P356
10.1086/302298
P407
P577
1999-03-01T00:00:00Z