A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
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Voltage-Gated Cav1 Channels in Disorders of Vision and HearingTrio-based exome sequencing arrests de novo mutations in early-onset high myopiaLycium barbarum (wolfberry) reduces secondary degeneration and oxidative stress, and inhibits JNK pathway in retina after partial optic nerve transection.A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene.Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.
P2860
Q28084651-C85F2ADC-284C-4958-866F-CB385A6E51F2Q33594752-7E9E0922-6A4D-4C83-8810-4D224BD2463CQ34873489-20DF9156-5265-4D13-B80E-D42F69D601EBQ35016967-4EF1517F-6CE6-48DE-B77E-8F540CC3C63AQ37593044-113B9DB5-55FF-44C9-A770-919DB165F841Q42325649-1E588C81-F101-4EA8-9947-E9DCF6C0C1D8Q55248742-9F3DC9A3-7BAD-45D9-A5AF-C03DA8BD7591
P2860
A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
description
2011 nî lūn-bûn
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2011年の論文
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name
A novel p.Gly603Arg mutation i ...... ndness phenotypes in a family.
@ast
A novel p.Gly603Arg mutation i ...... ndness phenotypes in a family.
@en
type
label
A novel p.Gly603Arg mutation i ...... ndness phenotypes in a family.
@ast
A novel p.Gly603Arg mutation i ...... ndness phenotypes in a family.
@en
prefLabel
A novel p.Gly603Arg mutation i ...... ndness phenotypes in a family.
@ast
A novel p.Gly603Arg mutation i ...... ndness phenotypes in a family.
@en
P2093
P2860
P1433
P1476
A novel p.Gly603Arg mutation i ...... ndness phenotypes in a family.
@en
P2093
Ajoy Vincent
Carol A Westall
Megan A Day
Tom Wright
P2860
P304
P50
P577
2011-12-15T00:00:00Z