A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.
about
Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing lossFrequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screeningNon-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases.Modifiers of hearing impairment in humans and mice.Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese familyMRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutationDisorders of mitochondrial protein synthesis.Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment.Mitochondrial rRNA and tRNA and hearing function.Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafnessScreening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.The role of mitochondrial DNA mutations in hearing loss.Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.Audiological and genetic features of the mtDNA mutations.A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations.Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover.A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.The search of a genetic basis for noise-induced hearing loss (NIHL).Isolated hearing loss associated with T7511C mutation in mitochondrial DNA.Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients.Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.
P2860
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P2860
A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.
description
2000 nî lūn-bûn
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2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
A novel mutation in the mitoch ...... sorineural hearing impairment.
@ast
A novel mutation in the mitoch ...... sorineural hearing impairment.
@en
type
label
A novel mutation in the mitoch ...... sorineural hearing impairment.
@ast
A novel mutation in the mitoch ...... sorineural hearing impairment.
@en
prefLabel
A novel mutation in the mitoch ...... sorineural hearing impairment.
@ast
A novel mutation in the mitoch ...... sorineural hearing impairment.
@en
P2093
P356
P1476
A novel mutation in the mitoch ...... sorineural hearing impairment.
@en
P2093
A F Markham
L J Pulleyn
M J Parker
R F Mueller
T P Hutchin
P304
P356
10.1136/JMG.37.9.692
P407
P577
2000-09-01T00:00:00Z