Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.
about
The adaptive evolution of the mammalian mitochondrial genomeDefects in multiple complexes of the respiratory chain are present in ageing human colonic crypts.Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humansComparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations.Divorcing the Late Upper Palaeolithic demographic histories of mtDNA haplogroups M1 and U6 in Africa.Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.MT-CYB mutations in hypertrophic cardiomyopathy.Median network analysis of defectively sequenced entire mitochondrial genomes from early and contemporary disease studies.Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches.
P2860
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P2860
Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Analysis of mitochondrial DNA ...... phorylation system deficiency.
@en
Analysis of mitochondrial DNA ...... phorylation system deficiency.
@nl
type
label
Analysis of mitochondrial DNA ...... phorylation system deficiency.
@en
Analysis of mitochondrial DNA ...... phorylation system deficiency.
@nl
prefLabel
Analysis of mitochondrial DNA ...... phorylation system deficiency.
@en
Analysis of mitochondrial DNA ...... phorylation system deficiency.
@nl
P2093
P2860
P50
P356
P1476
Analysis of mitochondrial DNA ...... sphorylation system deficiency
@en
P2093
J A M Smeitink
P2860
P304
P356
10.1136/JMG.2006.042168
P407
P577
2006-05-31T00:00:00Z