Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
about
Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17pNovel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese familyEvidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotypeMap refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosaUpdate on the molecular genetics of retinitis pigmentosaA new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.Molecular genetic techniques and applications in ophthalmology.Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q.Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families.A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneityAutosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1qPremature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.Pre-mRNA splicing and retinitis pigmentosaA novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four.Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetranceBreakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.Refinement of the cone-rod retinal dystrophy locus on chromosome 19q.Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21.Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.Molecular genetics of human retinal dystrophies.Molecular cloning and mapping of a novel developmentally regulated human C2H2-type zinc finger.Identification of a disease-causing mutation in a Chinese patient with retinitis pigmentosa by targeted next-generation sequencing.Regulation of adenylyl cyclase in LTP
P2860
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P2860
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
description
1994 nî lūn-bûn
@nan
1994 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Identification of a sixth locu ...... is pigmentosa on chromosome 19
@ast
Identification of a sixth locu ...... is pigmentosa on chromosome 19
@en
Identification of a sixth locu ...... is pigmentosa on chromosome 19
@nl
type
label
Identification of a sixth locu ...... is pigmentosa on chromosome 19
@ast
Identification of a sixth locu ...... is pigmentosa on chromosome 19
@en
Identification of a sixth locu ...... is pigmentosa on chromosome 19
@nl
prefLabel
Identification of a sixth locu ...... is pigmentosa on chromosome 19
@ast
Identification of a sixth locu ...... is pigmentosa on chromosome 19
@en
Identification of a sixth locu ...... is pigmentosa on chromosome 19
@nl
P2093
P356
P1476
Identification of a sixth locu ...... is pigmentosa on chromosome 19
@en
P2093
C F Inglehearn
M al-Maghtheh
S S Bhattacharya
P356
10.1093/HMG/3.2.351
P407
P577
1994-02-01T00:00:00Z