×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
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
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CTD_human
We have characterized using minigenes four splicing mutations affecting exonic or intronic nucleotides of the FAH gene identified in two HT1 patients.
23895425
2014
×
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
GeneticVariation
UNIPROT
The patient, currently aged 12 years, shows a normal physical and psychomotor development.This is the first report of mild tyrosinemia type I disease caused by an Ala35Thr mutation in the FAH gene, presenting atypically without increase of the diagnostically important toxic metabolites succinylacetone and succinylacetoacetate.
20003495
2009
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
GENOMICS_ENGLAND
Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.
15759101
2005
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
Biomarker
CTD_human
Human hereditary tyrosinemia type I (HT1 ), caused by mutations in the FAH gene, is an autosomal recessive disorder in which the patient usually dies of liver fibrosis and cirrhosis during early childhood; NTBC treatment is known to prolong HT1 children's lives-although liver fibrosis, cirrhosis, hepatocarcinoma, and corneal opacities sometimes occur.
12899938
2003
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Tyrosinemia type I , the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH ).
11476670
2001
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Thus far, 34 mutations in the FAH gene have been reported in various HT1 patients.
11278491
2001
×
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
GeneticVariation
UNIPROT
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
11196105
2000
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
To investigate the molecular heterogeneity of tyrosinemia, the geographic distribution and the genotype-phenotype relationship, we have analyzed the FAH genotype of 25 HT1 patients.
9633815
1998
×
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
GeneticVariation
UNIPROT
Hereditary tyrosinemia type 1 : novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
8557261
1996
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
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
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
GeneticVariation
UNIPROT
Two novel mutations involved in hereditary tyrosinemia type I.
7757089
1995
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I .
7977370
1994
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase .
8005583
1994
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
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
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
GeneticVariation
UNIPROT
We investigated the molecular basis of FAH deficiency in a hereditary tyrosinemia type 1 patient whose liver FAH showed a very low enzymatic activity.
8364576
1993
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
GeneticVariation
UNIPROT
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I .
8318997
1993