Mutation screening in patients with isolated cytochrome c oxidase deficiency
about
Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh diseaseYeast mitochondrial biogenesis: a role for the PUF RNA-binding protein Puf3p in mRNA localizationCrystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein.Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.The role of mitochondrial DNA copy number in mammalian fertility.A functionally dominant mitochondrial DNA mutation.Mitochondriopathies.Genetics of inherited cardiomyopathies.Integrated Left Ventricular Global Transcriptome and Proteome Profiling in Human End-Stage Dilated Cardiomyopathy.Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.Mitochondrial hepatopathies: advances in genetics and pathogenesis.Liver disease in mitochondrial disorders.Copper transporters and chaperones: Their function on angiogenesis and cellular signalling.Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseasesSURF1 missense mutations promote a mild Leigh phenotype.Reversible infantile respiratory chain deficiency: a clinical and molecular study.Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene.Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model.Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
P2860
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P2860
Mutation screening in patients with isolated cytochrome c oxidase deficiency
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mutation screening in patients with isolated cytochrome c oxidase deficiency
@ast
Mutation screening in patients with isolated cytochrome c oxidase deficiency
@en
Mutation screening in patients with isolated cytochrome c oxidase deficiency
@nl
type
label
Mutation screening in patients with isolated cytochrome c oxidase deficiency
@ast
Mutation screening in patients with isolated cytochrome c oxidase deficiency
@en
Mutation screening in patients with isolated cytochrome c oxidase deficiency
@nl
altLabel
Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency
@en
prefLabel
Mutation screening in patients with isolated cytochrome c oxidase deficiency
@ast
Mutation screening in patients with isolated cytochrome c oxidase deficiency
@en
Mutation screening in patients with isolated cytochrome c oxidase deficiency
@nl
P2093
P2860
P3181
P1433
P1476
Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency
@en
P2093
Ali B Naini
Carolyn M Sue
Darryl C De Vivo
Eduardo Bonilla
Leonardo Salviati
Mercy M Davidson
Sabrina Sacconi
Sara Shanske
P2860
P304
P3181
P356
10.1203/00006450-200302000-00005
10.1203/01.PDR.0000048100.91730.6A
P407
P577
2003-02-01T00:00:00Z
P6179
1030952463