|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation |
CLINVAR |
[Mutation analysis of FAH gene in patients with tyrosinemia type 1].
|
23927806 |
2013 |
|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation |
CLINVAR |
[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].
|
21117323 |
2010 |
|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation |
CLINVAR |
[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].
|
23225041 |
2012 |
|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation |
BEFREE |
We present here the first report on identification of FAH mutations in HT1 patients from Pakistan with a novel one.
|
26565546 |
2016 |
|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
Biomarker |
BEFREE |
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 |
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 |
CLINVAR |
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 |
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 |
BEFREE |
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 |
BEFREE |
We have studied a knockout mouse with fumarylacetoacetate hydrolase (FAH) deficiency as a model of human hereditary tyrosinaemia type (I (HT1).
|
9728332 |
1998 |
|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation |
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 |
|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation |
BEFREE |
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 |
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 |
CausalMutation |
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 |
|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation |
CLINVAR |
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
|
24016420 |
2013 |
|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation |
CLINVAR |
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
|
8076937 |
1994 |
|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
CausalMutation |
CLINVAR |
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
|
8076937 |
1994 |
|
| 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 |
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 |
CausalMutation |
CLINVAR |
Type 1 Tyrosinaemia.
|
27814443 |
2016 |
|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation |
UNIPROT |
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
|
1401056 |
1992 |
|
| 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 |
GeneticVariation |
CLINVAR |
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 |
Two novel mutations involved in hereditary tyrosinemia type I.
|
7757089 |
1995 |
|
| Entrez Id: |
2184 |
| Gene Symbol: |
FAH |
FAH
|
Tyrosinemia, Type I
|
1.000 |
GeneticVariation |
BEFREE |
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
|
8005583 |
1994 |