Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F
about
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F geneGenotype-phenotype correlation in British families with X linked congenital stationary night blindnessVoltage-Gated Cav1 Channels in Disorders of Vision and HearingThirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retinaModified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formationDysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2Assessment of night vision problems in patients with congenital stationary night blindnessA novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosaA novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night BlindnessAssessing retinal structure in complete congenital stationary night blindness and Oguchi diseaseWhat can naturally occurring mutations tell us about Ca(v)1.x channel function?Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.C-terminal modulator controls Ca2+-dependent gating of Ca(v)1.4 L-type Ca2+ channels.Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).Unique disease heritage of the Dutch-German Mennonite population.A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred.Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.
P2860
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P2860
Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F
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2000 nî lūn-bûn
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2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
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2000 թվականի հունիսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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Clinical variability among pat ...... a founder mutation in CACNA1F
@ast
Clinical variability among pat ...... a founder mutation in CACNA1F
@en
Clinical variability among pat ...... a founder mutation in CACNA1F
@nl
type
label
Clinical variability among pat ...... a founder mutation in CACNA1F
@ast
Clinical variability among pat ...... a founder mutation in CACNA1F
@en
Clinical variability among pat ...... a founder mutation in CACNA1F
@nl
prefLabel
Clinical variability among pat ...... a founder mutation in CACNA1F
@ast
Clinical variability among pat ...... a founder mutation in CACNA1F
@en
Clinical variability among pat ...... a founder mutation in CACNA1F
@nl
P2093
P1476
Clinical variability among pat ...... a founder mutation in CACNA1F
@en
P2093
K M Boycott
N T Bech-Hansen
W G Pearce
P304
P356
10.1016/S0008-4182(00)80031-9
P407
P577
2000-06-01T00:00:00Z