Article
Screening human EST database for identification of candidate genes in respiratory chain deficiency.
Molecular genetics and metabolism - 1 Mar 2000
Rötig A, Valnot I, Mugnier C, Rustin P, Munnich A
Abstract excerpt
Disorders of mitochondrial oxidative phosphorylation (OXPHOS) are now recognized as major causes of human metabolic diseases and several mutations of mitochondrial and nuclear genes encoding respiratory chain components have been reported. Interestingly, mutations of nuclear genes involved in mitochondrial respiratory chain assembly, protein trafficking, and iron metabolism are also known to alter oxidative...
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