Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families
about
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosaCongenital 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 pigmentosaMultiprotein 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 genesAllelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.Alternative splicing and retinal degenerationRemapping 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 ORF15Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.Mutations of RPGR in X-linked retinitis pigmentosa (RP3).Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.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 pigmentosaMicrosatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3.Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.Reply to leder and hodge.Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
P2860
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P2860
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families
description
1997 nî lūn-bûn
@nan
1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի սեպտեմբերին 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
Analysis of the RPGR gene in 1 ...... splice defects in two families
@ast
Analysis of the RPGR gene in 1 ...... splice defects in two families
@en
Analysis of the RPGR gene in 1 ...... splice defects in two families
@nl
type
label
Analysis of the RPGR gene in 1 ...... splice defects in two families
@ast
Analysis of the RPGR gene in 1 ...... splice defects in two families
@en
Analysis of the RPGR gene in 1 ...... splice defects in two families
@nl
prefLabel
Analysis of the RPGR gene in 1 ...... splice defects in two families
@ast
Analysis of the RPGR gene in 1 ...... splice defects in two families
@en
Analysis of the RPGR gene in 1 ...... splice defects in two families
@nl
P2093
P2860
P356
P1476
Analysis of the RPGR gene in 1 ...... splice defects in two families
@en
P2093
M Abrahamson
M Buraczynska
P A Sieving
P Forsythe
S Andréasson
S G Jacobson
P2860
P304
P356
10.1086/515523
P407
P577
1997-09-01T00:00:00Z