Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
about
Functional characterization of the human myosin-7a motor domainSurvey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse originsThe product of the split ends gene is required for the maintenance of positional information during Drosophila developmentUnconventional myosin VIIA is a novel A-kinase-anchoring proteinMutations in the myosin VIIA gene cause non-syndromic recessive deafnessThe autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA geneAutosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA geneNovel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese familyDeafness and retinal degeneration in a novel USH1C knock-in mouse modelTowards a molecular understanding of Drosophila hearingAt the speed of sound: gene discovery in the auditory systemAT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes.Linkage analysis in Usher syndrome type I (USH1) families from SpainUnconventional myosins and the genetics of hearing loss.Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.Inner ear morphology is perturbed in two novel mouse models of recessive deafness.Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B.Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.MYO7A mutation screening in Usher syndrome type I patients from diverse origins.Unconventional myosins, the basis for deafness in mouse and man.Searching for evidence of DFNB2.Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.Novel mutations in MYO7A and USH2A in Usher syndrome.Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.Non-Primate Lentiviral Vectors and Their Applications in Gene Therapy for Ocular Disorders.
P2860
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P2860
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
@ast
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
@en
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
@nl
type
label
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
@ast
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
@en
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
@nl
prefLabel
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
@ast
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
@en
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
@nl
P2093
P356
P1476
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB
@en
P2093
D Larget-Piet
F Levi-Acobas
S Blanchard
P356
10.1093/HMG/6.1.111
P407
P577
1997-01-01T00:00:00Z