Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13
about
Prioritizing the development of mouse models for childhood brain disordersAnalysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss.Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular traffickingComparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.Inherited disorders of voltage-gated sodium channels.Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.Prefoldin 5 is required for normal sensory and neuronal development in a murine model.A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice.Genome-wide ENU mutagenesis for the discovery of novel male fertility regulators.Mouse models of human ocular disease for translational research.A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment.Mouse models of ocular diseases.
P2860
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P2860
Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13
description
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2004
@ast
im Mai 2004 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2004/05/01)
@sk
vědecký článek publikovaný v roce 2004
@cs
wetenschappelijk artikel (gepubliceerd op 2004/05/01)
@nl
наукова стаття, опублікована в травні 2004
@uk
مقالة علمية (نشرت في مايو 2004)
@ar
name
Three ENU-induced neurological ...... linked retinal mutation, rd13
@ast
Three ENU-induced neurological ...... linked retinal mutation, rd13
@en
Three ENU-induced neurological ...... linked retinal mutation, rd13
@nl
type
label
Three ENU-induced neurological ...... linked retinal mutation, rd13
@ast
Three ENU-induced neurological ...... linked retinal mutation, rd13
@en
Three ENU-induced neurological ...... linked retinal mutation, rd13
@nl
prefLabel
Three ENU-induced neurological ...... linked retinal mutation, rd13
@ast
Three ENU-induced neurological ...... linked retinal mutation, rd13
@en
Three ENU-induced neurological ...... linked retinal mutation, rd13
@nl
P2093
P1433
P1476
Three ENU-induced neurological ...... linked retinal mutation, rd13
@en
P2093
Kevin L Seburn
Miriam H Meisler
Wayne N Frankel
P2888
P304
P356
10.1007/S00335-004-2332-1
P577
2004-05-01T00:00:00Z