Title : Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.

Pub. Date : 2014 Aug

PMID : 23895425






2 Functional Relationships(s)
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1 Hereditary tyrosinemia type I (HT1) is a rare disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH) in the tyrosine catabolic pathway, resulting mainly in hepatic alterations due to accumulation of the toxic metabolites fumarylacetoacetate, maleylacetoacetate and succinylacetone. succinylacetone fumarylacetoacetate hydrolase Homo sapiens
2 Hereditary tyrosinemia type I (HT1) is a rare disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH) in the tyrosine catabolic pathway, resulting mainly in hepatic alterations due to accumulation of the toxic metabolites fumarylacetoacetate, maleylacetoacetate and succinylacetone. succinylacetone fumarylacetoacetate hydrolase Homo sapiens