Title : Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

Pub. Date : 2001 May 4

PMID : 11278491






2 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by a deficiency of the enzyme involved in the last step of tyrosine degradation, fumarylacetoacetate hydrolase (FAH). Tyrosine fumarylacetoacetate hydrolase Homo sapiens
2 Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by a deficiency of the enzyme involved in the last step of tyrosine degradation, fumarylacetoacetate hydrolase (FAH). Tyrosine fumarylacetoacetate hydrolase Homo sapiens