×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
Biomarker
CLINGEN
Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome.
27832414
2017
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
Biomarker
CLINGEN
Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II .
18945316
2009
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
Biomarker
CLINGEN
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II ; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.
16917729
2006
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
Biomarker
CLINGEN
Richner-Hanhart syndrome : report of a case with a novel mutation of tyrosine aminotransferase .
16318910
2006
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
Biomarker
CLINGEN
In all, twelve different TAT gene mutations have now been identified in tyrosinemia type II .
9544843
1998
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
GermlineCausalMutation
ORPHANET
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II .
1357662
1992
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
Biomarker
GENOMICS_ENGLAND
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II .
1357662
1992
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
Biomarker
CLINGEN
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II .
1357662
1992
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
GeneticVariation
UNIPROT
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II .
1357662
1992
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
Biomarker
CLINGEN
Soluble and mitochondrial forms of tyrosine aminotransferase. Relationship to human tyrosinemia.
4389443
1969
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
Biomarker
CTD_human
×
Entrez Id:
6898
Gene Symbol:
TAT
TAT
Tyrosine Transaminase Deficiency Disease
0.800
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosine Transaminase Deficiency Disease
0.300
Biomarker
CTD_human
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
23895425
2014
×
Entrez Id:
2184
Gene Symbol:
FAH
FAH
Tyrosine Transaminase Deficiency Disease
0.300
Biomarker
CTD_human
Pharmacological rescue of the 14CoS/14CoS mouse: hepatocyte apoptosis is likely caused by endogenous oxidative stress.
12899938
2003
×
Entrez Id:
3242
Gene Symbol:
HPD
HPD
Tyrosine Transaminase Deficiency Disease
0.300
Biomarker
CTD_human