Defective colour vision associated with a missense mutation in the human green visual pigment gene
about
The genetics of normal and defective color visionGenetic heterogeneity among blue-cone monochromatsAdvances in understanding the molecular basis of the first steps in color visionA novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defectRecent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.Adaptive optics retinal imaging: emerging clinical applications.Color-deficient cone mosaics associated with Xq28 opsin mutations: a stop codon versus gene deletions.Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness.Curing color blindness--mice and nonhuman primatesThree different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsAn A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency.Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsinMolecular genetics of color-vision deficiencies.X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene.Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope.Selective expression of human X chromosome-linked green opsin genes.The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.CRISPR/Cas9-Mediated Three Nucleotide Insertion Corrects a Deletion Mutation in MRP1/ABCC1 and Restores Its Proper Folding and Function.Photoreceptor Cilia and Retinal Ciliopathies.Defective OPN1MW causes DCB and BCMLight stimulates opsin receptorsNovel form of a single X-linked visual pigment gene in a unique dichromatic color-vision defect.Expression of RecA and cell-penetrating peptide (CPP) fusion protein in bacteria and in mammalian cells.A new subset of deutan colour vision defect associated with an L/M visual pigment gene array of normal order and -71C substitution in the Japanese population.Assessment of #TheDress With Traditional Color Vision Tests: Perception Differences Are Associated With Blueness.An epigenetic mechanism for cavefish eye degeneration
P2860
Q24619510-8B39F27B-A184-4BA0-A592-71EE3B6BF5A8Q24671042-E816AE28-9302-41BE-A2EA-A840EF5E9177Q26799471-6BD78A5E-1B9B-4ACA-940A-B3CD646D5397Q28262688-C1E035D2-F7F0-4642-A20E-04E5B89DA65BQ33596248-76361BB2-273D-43FC-AB89-CFA564154061Q33740576-AF7915FC-B5AD-4FD8-8286-960A5250B1BEQ34138940-CA9D73EE-DAF9-4D66-B2DE-17BA35DE0BDDQ34321474-FF8647D4-E0EE-4073-B363-8CE6163C23E1Q34400265-C5DF9D9F-AD8B-465A-92C7-F53555F77545Q34435751-F6322006-057A-4ECE-B64D-19A756E5C9E9Q34869492-DF10EBB5-C021-4709-BF9B-135146F1DCD2Q35014281-9AD11C75-8D38-442F-8A85-A6C8121E4118Q35934812-2FA9E11D-A80E-48AF-B6E6-7652EC236722Q36675237-1360255B-8472-4979-BA9D-4E4D6FDC966CQ36977920-E451168D-D799-4A04-9F89-164BA99F54E0Q37250595-86755DC8-5CEA-4700-8705-604882530D3AQ37278370-B79EF7D4-F7F8-46E4-9A6E-843355250C32Q38721197-381FA6E9-FFA2-4D4A-B1C7-79794E02176EQ39176551-D0970194-9BF6-4FF9-A1F9-8AAF97CB8F4BQ50288890-F2DBCDDB-C18E-4FF6-88A7-8CD5F62E80F3Q50298360-C98E7BBC-FB8E-4E85-A6D5-96601E933650Q50716066-90BD3425-A3AE-4FC3-B442-2CF61F3B31A6Q51730454-5FBEA223-A68D-4016-A8D4-743C7A29606DQ53565944-215775CA-A7F3-417A-8A6E-99040459A3FCQ55229988-025EC0AF-4E4A-46B1-AEED-D3827CF7B48BQ57093404-CD9CC929-461A-45A4-9840-89A233018B34
P2860
Defective colour vision associated with a missense mutation in the human green visual pigment gene
description
1992 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1992
@ast
scientific journal article
@en
vedecký článok (publikovaný 1992/07/01)
@sk
vědecký článek publikovaný v roce 1992
@cs
wetenschappelijk artikel (gepubliceerd op 1992/07/01)
@nl
wissenschaftlicher Artikel
@de
наукова стаття, опублікована в липні 1992
@uk
name
Defective colour vision associ ...... uman green visual pigment gene
@ast
Defective colour vision associ ...... uman green visual pigment gene
@en
Defective colour vision associ ...... uman green visual pigment gene
@nl
type
label
Defective colour vision associ ...... uman green visual pigment gene
@ast
Defective colour vision associ ...... uman green visual pigment gene
@en
Defective colour vision associ ...... uman green visual pigment gene
@nl
prefLabel
Defective colour vision associ ...... uman green visual pigment gene
@ast
Defective colour vision associ ...... uman green visual pigment gene
@en
Defective colour vision associ ...... uman green visual pigment gene
@nl
P2093
P2860
P356
P1433
P1476
Defective colour vision associ ...... uman green visual pigment gene
@en
P2093
A. G. Motulsky
D. T. Lindsey
D. Y. Teller
E. Sanocki
J. Winderickx
S. S. Deeb
P2860
P2888
P304
P356
10.1038/NG0792-251
P407
P577
1992-07-01T00:00:00Z