The molecular basis of the genetic mosaicism in hereditary tyrosinemia (HT1) / Etresia van Dyk
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 fumarylacetoacetate (FAA), maleylacetoacetate (MAA), succinylacetone (SA) and p-hydro...
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| Language: | en |
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North-West University
2013
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| Online Access: | http://hdl.handle.net/10394/8517 |
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