Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.

Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.

Item
http://www.wikidata.org/entity/Q45880449
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.In vivo imaging of human cone photoreceptor inner segments.A prospective longitudinal study of retinal structure and function in achromatopsia.Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.Retinal structure and function in achromatopsia: implications for gene therapy.Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography.The cone dysfunction syndromes.Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.CNGB3 mutations cause severe rod dysfunction.Tomographic comparison of cone-rod and rod-cone retinal dystrophies.Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
P2860

Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.

Item
http://www.wikidata.org/entity/Q45880449
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.
@en
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.
@nl
type
label
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.
@en
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.
@nl
prefLabel
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.
@en
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia
@en
P2093
P304
P31
P356
10.1136/BJOPHTHALMOL-2012-301737
P407
P433
P478
P50
P577
P698
P921