A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

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http://www.wikidata.org/entity/Q24669970
Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystoniaProfiling of T helper cell-derived small RNAs reveals unique antisense transcripts and differential association of miRNAs with argonaute proteins 1 and 2Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyTwo novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis.Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and diseaseA MELAS syndrome family harboring two mutations in mitochondrial genomeMitochondrial gene mutations and human diseases: a prolegomenon.Mitochondrial genetics: principles and practice.An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism.Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
P2860

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

Item
http://www.wikidata.org/entity/Q24669970
description
1992 nî lūn-bûn
@nan
1992 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
name
A new disease-related mutation ...... t of the respiratory complex I
@ast
A new disease-related mutation ...... t of the respiratory complex I
@en
A new disease-related mutation ...... t of the respiratory complex I
@nl
type
label
A new disease-related mutation ...... t of the respiratory complex I
@ast
A new disease-related mutation ...... t of the respiratory complex I
@en
A new disease-related mutation ...... t of the respiratory complex I
@nl
prefLabel
A new disease-related mutation ...... t of the respiratory complex I
@ast
A new disease-related mutation ...... t of the respiratory complex I
@en
A new disease-related mutation ...... t of the respiratory complex I
@nl
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
A new disease-related mutation ...... t of the respiratory complex I
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932