A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
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Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 geneFine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17pLoci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelicEvidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotypeUpdate on the molecular genetics of retinitis pigmentosa2006 expressed-sequence tags derived from human chromosome 7-enriched cDNA librariesMolecular genetic techniques and applications in ophthalmology.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 heterogeneityRP11 is the second most common locus for dominant retinitis pigmentosa.Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.Ophthalmic genetics: a genealogical guide to sources in England and WalesMutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.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.Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9)Pre-mRNA splicing and retinitis pigmentosaGenetic modifiers of retinal degeneration in the rd3 mouse.Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four.Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.Hereditary retinopathies: insights into a complex genetic aetiology.Epidemiology of retinitis pigmentosa in the Valencian community (Spain).Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21.Genetic mapping of the human amphiphysin gene (AMPH) at 7p14-p13 excludes its involvement in retinitis pigmentosa 9 or dominant cystoid macular dystrophy.Molecular genetics of human retinal dystrophies.Regulation of adenylyl cyclase in LTP
P2860
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P2860
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
description
1993 nî lūn-bûn
@nan
1993 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
@ast
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
@en
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
@nl
type
label
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
@ast
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
@en
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
@nl
prefLabel
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
@ast
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
@en
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
@nl
P2093
P2860
P356
P1433
P1476
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
@en
P2093
A M Stephenson
C F Inglehearn
M al-Maghtheh
S A Carter
P2860
P2888
P356
10.1038/NG0593-51
P407
P577
1993-05-01T00:00:00Z