Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness
about
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessA 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 geneModified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2TRPM1 mutations are associated with the complete form of congenital stationary night blindnessRod bipolar cells and horizontal cells form displaced synaptic contacts with rods in the outer nuclear layer of the nob2 retinaAssessment of night vision problems in patients with congenital stationary night blindnessAutofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa
P2860
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P2860
Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness
description
2001 nî lūn-bûn
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2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
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2001年の論文
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2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Novel CACNA1F mutations in Jap ...... tal stationary night blindness
@ast
Novel CACNA1F mutations in Jap ...... tal stationary night blindness
@en
Novel CACNA1F mutations in Jap ...... tal stationary night blindness
@nl
type
label
Novel CACNA1F mutations in Jap ...... tal stationary night blindness
@ast
Novel CACNA1F mutations in Jap ...... tal stationary night blindness
@en
Novel CACNA1F mutations in Jap ...... tal stationary night blindness
@nl
prefLabel
Novel CACNA1F mutations in Jap ...... tal stationary night blindness
@ast
Novel CACNA1F mutations in Jap ...... tal stationary night blindness
@en
Novel CACNA1F mutations in Jap ...... tal stationary night blindness
@nl
P2093
P1476
Novel CACNA1F mutations in Jap ...... tal stationary night blindness
@en
P2093
P304
P407
P577
2001-06-01T00:00:00Z