Article ID Journal Published Year Pages File Type
10760554 Biochemical and Biophysical Research Communications 2012 6 Pages PDF
Abstract
► We report a new case of H syndrome bearing a novel mutation in the SLC29A3 gene. ► His clinical phenotype is more severe than expected. ► We have studied key biochemical issues in samples derived from this patient. ► We have assessed mitochondrial function and mtDNA content under basal and challenging conditions. ► The pathogenesis of H syndrome is not associated with mitochondrial toxicity.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Authors
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