Concepedia

Identification of a deletion in the NDUFS4 gene using array-comparative genomic hybridization in a patient with suspected mitochondrial respiratory disease

Barbara Lombardo, Carlo Ceglia, Marina Tarsitano, Ippolito Pierucci, Francesco Salvatore, Lucio Pastore

Gene · 2013 · 24 citations · 11 references

DOI

Concepts

References

11

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

S. Rahman, Rozanne B. Blok, H H Dahl et al. · Annals of Neurology · 1996 · 780 citations

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Thomas Bourgeron, Pierre Rustin, Dominique Chrétien et al. · Nature Genetics · 1995 · 725 citations

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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E. Calvo, Elena J. Tucker, Alison G. Compton et al. · Nature Genetics · 2010 · 361 citations · Full text

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Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

Lambert van den Heuvel, W. Ruitenbeek, Roel Smeets et al. · The American Journal of Human Genetics · 1998 · 264 citations · Full text

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A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

Vittoria Petruzzella · Human Molecular Genetics · 2001 · 137 citations

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