Concepedia

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

Sandrine Haut, M. Brivet, Guy Touati, Pierre Rustin, Sophie Lebon, Angela Garcia-Cazorla, Jean Marie Saudubray, Audrey Boutron, Alain Legrand, Abdelhamid Slama

Human Genetics · 2003 · 132 citations · 28 references

DOI

Concepts

References

28

Sequence and organization of the human mitochondrial genome

Stephen K. Anderson, Alan T. Bankier, B. G. Barrell et al. · Nature · 1981 · 9.7K citations

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Nomenclature for the description of human sequence variations

JT den Dunnen, Stylianos E. Antonarakis · Human Genetics · 2001 · 905 citations

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Respiratory Enzymes in Oxidative Phosphorylation

Britton Chance, Herrick Baltscheffsky · Journal of Biological Chemistry · 1958 · 895 citations · Full text

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

Zhiqing Zhu, Jianbo Yao, Timothy Johns et al. · Nature Genetics · 1998 · 625 citations

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

Lefkothea C. Papadopoulou, Carolyn M. Sue, Mercy M. Davidson et al. · Nature Genetics · 1999 · 571 citations

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