Blue cone monochromacy: causative mutations and associated phenotypes.

Blue cone monochromacy: causative mutations and associated phenotypes.

Item
http://www.wikidata.org/entity/Q34017417
X-linked cone dystrophy caused by mutation of the red and green cone opsinsAdvances in understanding the molecular basis of the first steps in color visionDeletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaicClinical utility gene card for: blue cone monochromatismThree different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsHigh-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacyVariations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy.The cone dysfunction syndromes.Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy.Insight into the molecular genetics of myopia.
P2860

Blue cone monochromacy: causative mutations and associated phenotypes.

Item
http://www.wikidata.org/entity/Q34017417
description
2009 nî lūn-bûn
@nan
2009 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Blue cone monochromacy: causative mutations and associated phenotypes.
@ast
Blue cone monochromacy: causative mutations and associated phenotypes.
@en
Blue cone monochromacy: causative mutations and associated phenotypes.
@nl
type
label
Blue cone monochromacy: causative mutations and associated phenotypes.
@ast
Blue cone monochromacy: causative mutations and associated phenotypes.
@en
Blue cone monochromacy: causative mutations and associated phenotypes.
@nl
prefLabel
Blue cone monochromacy: causative mutations and associated phenotypes.
@ast
Blue cone monochromacy: causative mutations and associated phenotypes.
@en
Blue cone monochromacy: causative mutations and associated phenotypes.
@nl
P1433
P1476
P2093
P2860
P304
P31
P478
P50
P577
P698
P932
P1433
P1476
Blue cone monochromacy: causative mutations and associated phenotypes
@en
P2093
P2860
P304
P31
P478
P50
P577
P698
P932