A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis (Q28199158)

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Michèle Brivet

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Guy Touati

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Sophie Lebon

5

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Angela Garcia-Cazorla

6

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Jean Marie Saudubray

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Audrey Boutron

8

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Alain Legrand

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Abdelhamid Slama

https://scigraph.springernature.com/pub.10.1007/s00439-003-0946-0

10

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language of work or name

English

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publication date

July 2003

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published in

Human Genetics

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volume

113

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page(s)

118-22

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issue

2

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exact match

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cites work

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A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

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Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation.

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GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

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Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

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A point mutation in the cytb gene of cardiac mtDNA associated with complex III deficiency in ischemic cardiomyopathy

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A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy

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Respiratory enzymes in oxidative phosphorylation. II. Difference spectra

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Isolation of a single nuclear gene encoding human ubiquinone-binding protein in complex III of mitochondrial respiratory chain

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A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

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Novel mutations in mitochondrial cytochrome b in fatal post partum cardiomyopathy

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Nomenclature for the description of human sequence variations.

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Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-binding protein of complex III

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Ubiquinol-cytochrome-c reductase from human and bovine mitochondria

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A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

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Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

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Biochemical and molecular investigations in respiratory chain deficiencies

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A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance

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Mitochondrial defects in cardiomyopathy and neuromuscular disease

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

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Clinical heterogeneity in respiratory chain complex III deficiency in childhood

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A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

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Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

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The C-terminus of the 14-kDa subunit of ubiquinol-cytochrome-c oxidoreductase of the yeast Saccharomyces cerevisiae is involved in the assembly of a functional enzyme.

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10.1007/S00439-003-0946-0

Identifiers

DOI

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Dimensions Publication ID

1075274199

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OpenCitations bibliographic resource ID

3248466

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