Two new mutations in the MTATP6 gene associated with Leigh syndrome.
about
Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6De novo mtDNA point mutations are common and have a low recurrence risk.Mitochondrial ATP synthase: architecture, function and pathology.New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Understanding structure, function, and mutations in the mitochondrial ATP synthase.Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C.Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.Bioinformatics Analysis and Validation of the Expressed Sequences Tag in Human Colorectal Adenocarcinoma.Structural basis of proton translocation and force generation in mitochondrial ATP synthase.Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?Human induced pluripotent stem cell-derived neuronal progenitors are a suitable and effective drug discovery model for neurological mtDNA disorders.Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.Bioinformatics Analysis and Validation of the Expressed Sequences Tag in Human Colorectal Adenocarcinoma.ATP Synthase Diseases of Mitochondrial Genetic Origin.
P2860
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P2860
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
@ast
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
@en
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
@nl
type
label
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
@ast
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
@en
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
@nl
prefLabel
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
@ast
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
@en
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
@nl
P2093
P356
P1433
P1476
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
@en
P2093
P304
P356
10.1055/S-2005-872845
P577
2005-10-01T00:00:00Z