Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
about
Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.Contribution of the tRNAIle 4317A>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A>G mutation.Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss.
P2860
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
description
2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
@ast
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
@en
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
@nl
type
label
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
@ast
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
@en
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
@nl
prefLabel
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
@ast
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
@en
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
@nl
P2093
P2860
P50
P1433
P1476
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype
@en
P2093
Agata Skórka
Lech Korniszewski
Maciej Rzeski
Mariusz Furmanek
Urszula Lechowicz
P2860
P304
P356
10.1371/JOURNAL.PONE.0044054
P407
P577
2012-10-25T00:00:00Z