Article
Mapping gene associations in human mitochondria using clinical disease phenotypes.
PLoS computational biology - 1 Apr 2009
Scharfe Curt, Lu Henry Horng-Shing, Neuenburg Jutta K, Allen Edward A, Li Guan-Cheng, Klopstock Thomas, Cowan Tina M, Enns Gregory M, Davis Ronald W
Abstract excerpt
Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical phenotypes. Such a catalog would be useful to develop methods to analyze human phenotypic data, to determine genotype-phenotype relations among many genes and...
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