×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
25256450
2015
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.
21752152
2011
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
22554029
2012
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.
22002443
2012
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
23430822
2011
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.
14691918
2003
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Two novel mutations involved in hereditary tyrosinemia type I.
7757089
1995
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
25081276
2014
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
28755192
2017
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Prediction of mutant mRNA splice isoforms by information theory-based exon definition.
23348723
2013
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
26565546
2016
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias.
15187789
2004
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
25681080
2015
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
The fate of tyrosinaemic Hungarian patients before the NTBC aera.
24555242
2013
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
23430836
2011
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
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
CausalMutation
CLINVAR
Self-induced correction of the genetic defect in tyrosinemia type I.
7929843
1994
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
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
CausalMutation
CLINVAR
Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase.
15465000
2004
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
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
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
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
CausalMutation
CLINVAR
Fumarylacetoacetase mutations in tyrosinaemia type I.
8829657
1996
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
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
CausalMutation
CLINVAR
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
8028615
1994
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosinemia, Type I
1.000
CausalMutation
CLINVAR
A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.
15638932
2005