Browsing by Subject "Genetic instability"
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Impaired DNA repair and genomic stability in hereditary tyrosinemia type 1
(Elsevier, 2012)The autosomal recessive disorder, hereditary tyrosinemia type 1 (HT1), is caused by a defective fumarylacetoacetate hydrolase enzyme. Consequently intermediate metabolites such as fumarylacetoacetate, succinylacetone and ...