Progressive cone dystrophy associated with mutation in CNGB3.

Progressive cone dystrophy associated with mutation in CNGB3.

Item
http://www.wikidata.org/entity/Q34322849
X-linked cone dystrophy caused by mutation of the red and green cone opsinsThe pharmacology of cyclic nucleotide-gated channels: emerging from the darknessRetinal dystrophies, genomic applications in diagnosis and prospects for therapyCompound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsiaExome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesHomozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone healthIntegrity of the cone photoreceptor mosaic in oligocone trichromacy.Analysis of the ABCA4 gene by next-generation sequencing.Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channelsDisease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.Rod and rod-driven function in achromatopsia and blue cone monochromatism.Two siblings with late-onset cone-rod dystrophy and no visible macular degenerationA homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.Human retinal light sensitivity and melatonin rhythms following four days in near darkness.CNGB3 mutations cause severe rod dysfunction.
P2860

Progressive cone dystrophy associated with mutation in CNGB3.

Item
http://www.wikidata.org/entity/Q34322849
description
2004 nî lūn-bûn
@nan
2004 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հունիսին 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
Progressive cone dystrophy associated with mutation in CNGB3.
@ast
Progressive cone dystrophy associated with mutation in CNGB3.
@en
Progressive cone dystrophy associated with mutation in CNGB3.
@nl
type
label
Progressive cone dystrophy associated with mutation in CNGB3.
@ast
Progressive cone dystrophy associated with mutation in CNGB3.
@en
Progressive cone dystrophy associated with mutation in CNGB3.
@nl
prefLabel
Progressive cone dystrophy associated with mutation in CNGB3.
@ast
Progressive cone dystrophy associated with mutation in CNGB3.
@en
Progressive cone dystrophy associated with mutation in CNGB3.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Progressive cone dystrophy associated with mutation in CNGB3.
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698