The molecular basis of the genetic mosaicism in hereditary tyrosinemia (HT1) / Etresia van Dyk

The molecular basis of the genetic mosaicism in hereditary tyrosinemia (HT1) / Etresia van Dyk

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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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Bibliographic Details
Main Author: Van Dyk, Etresia
Language:en
Published: North-West University 2013
Subjects:
Hereditary tyrosinemia type1
Mosaicism
Hepatocellular carcinoma
DNA repair
Genome instability
Mutator phenotype
Online Access:http://hdl.handle.net/10394/8517

Internet

http://hdl.handle.net/10394/8517

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