×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Therapeutic genome editing by combined viral and non-viral delivery of CRISPR system components in vivo.
26829318
2016
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
We investigated a Chinese family with a HT1 child to identify mutations in FAH .
22884142
2012
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 .
11209059
2001
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
These results demonstrate the strong selective advantage of FAH -expressing cells in an FAH -deficient liver but also illustrate the danger of carcinomas arising from FAH -deficient hepatocytes in HT1 .
9095403
1997
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
7550234
1995
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1 .
7942842
1994
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Hereditary tyrosinemia type I is a metabolic disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH , EC 3.7.1.2), the last enzyme in the catabolic pathway of tyrosine.
8162054
1994
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.
8253378
1993
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I .
8318997
1993
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I ).
2378356
1990
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CLINGEN
Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.
7296877
1981