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By Wilkie Susan E.   Newbold RichardJ.  

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Oxford University Press

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Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients

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Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy

By Kleopa Kleopas A.   Drousiotou Anthi   Ormiston Annita   Kyriakides Theodoros  

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Risk for Alzheimer's disease correlates with transcriptional activity of the APOE gene

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Understanding human disease mutations through the use of interspecific genetic variation

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