Browsing Natural and Agricultural Sciences by Subject "DNA repair"
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The molecular basis of the genetic mosaicism in hereditary tyrosinemia (HT1)
(North-West University, 2011)Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder of the tyrosine degradation pathway. The defective fumarylacetoacetate hydrolase enzyme causes the accumulation of upstream metabolites such as ...