Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
about
DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafnessRP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaRPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteinsCongenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaA retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genesBiochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)The absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatmentRecent advances in the molecular basis of inherited photoreceptor degeneration.Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.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 pigmentosaThe complexities of ocular genetics.Mutations of RPGR in X-linked retinitis pigmentosa (RP3).Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseRetinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaLoss 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.X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.A novel approach to describe a U1 snRNA binding site.Population haplotypes of exon ORF15 of the retinitis pigmentosa GTPase regulator gene in Germany : implications for screening for inherited retinal disorders.Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.Reply to leder and hodge.
P2860
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P2860
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
description
1997 nî lūn-bûn
@nan
1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@ast
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@en
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@en-gb
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@nl
type
label
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@ast
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@en
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@en-gb
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@nl
prefLabel
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@ast
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@en
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@en-gb
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@nl
P2093
P2860
P50
P3181
P356
P1476
Spectrum of mutations in the R ...... X-linked retinitis pigmentosa
@en
P2093
D R Hoffman
G A Fishman
K Buraczynska
M A Musarella
M Buraczynska
P A Sieving
S Andréasson
P2860
P304
P3181
P356
10.1086/301646
P407
P577
1997-12-01T00:00:00Z