X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
about
X-linked cone dystrophy caused by mutation of the red and green cone opsinsRetinal dystrophies, genomic applications in diagnosis and prospects for therapyThe Ca2+ channel subunit beta2 regulates Ca2+ channel abundance and function in inner hair cells and is required for hearingVoltage-Gated Cav1 Channels in Disorders of Vision and HearingBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsModified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesCharacterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human RetinaZebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formationSpectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy.A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing.Two siblings with late-onset cone-rod dystrophy and no visible macular degenerationWhat can naturally occurring mutations tell us about Ca(v)1.x channel function?Comparisons of structural and functional abnormalities in mouse b-wave mutants.Genetic architecture of natural variation in visual senescence in Drosophila.Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.
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P2860
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
description
2006 nî lūn-bûn
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2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի օգոստոսին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
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2006年論文
@zh-mo
2006年論文
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2006年论文
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name
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@ast
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@en
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@en-gb
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@nl
type
label
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@ast
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@en
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@en-gb
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@nl
prefLabel
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@ast
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@en
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@en-gb
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@nl
P2093
P2860
P356
P1476
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
@en
P2093
E-M Sankila
J Isosomppi
M Mäntyjärvi
N T Bech-Hansen
R Jalkanen
P2860
P304
P356
10.1136/JMG.2006.040741
P407
P577
2006-08-01T00:00:00Z