|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
|
7977370 |
1994 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
|
7942842 |
1994 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Self-induced correction of the genetic defect in tyrosinemia type I.
|
7929843 |
1994 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Thus far, 34 mutations in the FAH gene have been reported in various HT1 patients.
|
11278491 |
2001 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
|
31568711 |
2019 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
|
8076937 |
1994 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias.
|
15187789 |
2004 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
|
8318997 |
1993 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].
|
23225041 |
2012 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
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 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, we identified a splice mutation and two nonsense mutations in the fumarylacetoacetate hydrolase gene in two patients from Quebec with tyrosinemia type I.
|
8028615 |
1994 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
|
24016420 |
2013 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
|
7550234 |
1995 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH).
|
11476670 |
2001 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We have characterized using minigenes four splicing mutations affecting exonic or intronic nucleotides of the FAH gene identified in two HT1 patients.
|
23895425 |
2014 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Children born with fumarylacetoacetate hydrolase (FAH) mutations suffer from Hepatorenal Tyrosinemia Type 1 (HT-1) resulting in renal dysfunction, liver failure, neurological impairments, and cancer.
|
30368954 |
2018 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
|
22554029 |
2012 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
|
7977370 |
1994 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.
|
15638932 |
2005 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.
|
1350265 |
1992 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.
|
8723690 |
1996 |
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
[Mutation analysis of FAH gene in patients with tyrosinemia type 1].
|
23927806 |
2013 |