Characterization of a novel form of X-linked incomplete achromatopsia.

Characterization of a novel form of X-linked incomplete achromatopsia.

Item
http://www.wikidata.org/entity/Q34363739
The genetics of normal and defective color visionAdvances in understanding the molecular basis of the first steps in color visionRole of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations.Color-deficient cone mosaics associated with Xq28 opsin mutations: a stop codon versus gene deletions.Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapyThree different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsBlue cone monochromacy: visual function and efficacy outcome measures for clinical trials.Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsinVariations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone MonochromacyRod and rod-driven function in achromatopsia and blue cone monochromatism.Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography.S-opsin knockout mice with the endogenous M-opsin gene replaced by an L-opsin variant.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.
P2860

Characterization of a novel form of X-linked incomplete achromatopsia.

Item
http://www.wikidata.org/entity/Q34363739
description
2004 nî lūn-bûn
@nan
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Characterization of a novel form of X-linked incomplete achromatopsia.
@ast
Characterization of a novel form of X-linked incomplete achromatopsia.
@en
Characterization of a novel form of X-linked incomplete achromatopsia.
@nl
type
label
Characterization of a novel form of X-linked incomplete achromatopsia.
@ast
Characterization of a novel form of X-linked incomplete achromatopsia.
@en
Characterization of a novel form of X-linked incomplete achromatopsia.
@nl
prefLabel
Characterization of a novel form of X-linked incomplete achromatopsia.
@ast
Characterization of a novel form of X-linked incomplete achromatopsia.
@en
Characterization of a novel form of X-linked incomplete achromatopsia.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Characterization of a novel form of X-linked incomplete achromatopsia.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698