Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10760554 | Biochemical and Biophysical Research Communications | 2012 | 6 Pages |
Abstract
⺠We report a new case of H syndrome bearing a novel mutation in the SLC29A3 gene. ⺠His clinical phenotype is more severe than expected. ⺠We have studied key biochemical issues in samples derived from this patient. ⺠We have assessed mitochondrial function and mtDNA content under basal and challenging conditions. ⺠The pathogenesis of H syndrome is not associated with mitochondrial toxicity.
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Authors
Isabel Huber-Ruano, Ekaitz Errasti-Murugarren, Valeria Godoy, Ángel Vera, Antoni L. Andreu, Elena Garcia-Arumi, Ramon MartÃ, Marçal Pastor-Anglada,