A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa
about
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosaIsolation of a candidate gene for choroideremiaRhodopsin mutations in autosomal dominant retinitis pigmentosaRecombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa familiesAutosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish originIdentification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresisIdentification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsinRecent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneityAutosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine.Finding and interpreting genetic variations that are important to ophthalmologists.Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.Genotypic and phenotypic characterization of P23H line 1 rat model.Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.Three new mutations in patients with myophosphorylase deficiency (McArdle disease)PDA (prolonged depolarizing afterpotential)-defective mutants: the story of nina's and ina's--pinta and santa maria, too.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesIrish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene.Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene.Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa.
P2860
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P2860
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
A 3-bp deletion in the rhodops ...... dominant retinitis pigmentosa
@ast
A 3-bp deletion in the rhodops ...... dominant retinitis pigmentosa
@en
A 3-bp deletion in the rhodops ...... dominant retinitis pigmentosa
@nl
type
label
A 3-bp deletion in the rhodops ...... dominant retinitis pigmentosa
@ast
A 3-bp deletion in the rhodops ...... dominant retinitis pigmentosa
@en
A 3-bp deletion in the rhodops ...... dominant retinitis pigmentosa
@nl
prefLabel
A 3-bp deletion in the rhodops ...... dominant retinitis pigmentosa
@ast
A 3-bp deletion in the rhodops ...... dominant retinitis pigmentosa
@en
A 3-bp deletion in the rhodops ...... dominant retinitis pigmentosa
@nl
P2093
P2860
P1476
A 3-bp deletion in the rhodops ...... dominant retinitis pigmentosa
@en
P2093
C F Inglehearn
D H Lester
S S Bhattacharya
P2860
P407
P577
1991-01-01T00:00:00Z