A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).
about
Transfer RNA and human diseaseImpairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia.Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.Mitochondrial DNA abnormalities in ophthalmological disease.Cardiological manifestations of mitochondrial respiratory chain disorders.Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
P2860
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
name
A novel mutation in the tRNAIl ...... ternal ophthalmoplegia (CPEO).
@ast
A novel mutation in the tRNAIl ...... ternal ophthalmoplegia (CPEO).
@en
type
label
A novel mutation in the tRNAIl ...... ternal ophthalmoplegia (CPEO).
@ast
A novel mutation in the tRNAIl ...... ternal ophthalmoplegia (CPEO).
@en
prefLabel
A novel mutation in the tRNAIl ...... ternal ophthalmoplegia (CPEO).
@ast
A novel mutation in the tRNAIl ...... ternal ophthalmoplegia (CPEO).
@en
P2093
P2860
P1476
A novel mutation in the tRNAIl ...... ternal ophthalmoplegia (CPEO).
@en
P2093
Andres Berardo
Bulent Kurt
Jorida Coku
Michio Hirano
P2860
P304
P356
10.1016/J.NMD.2010.01.006
P577
2010-02-10T00:00:00Z