|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
|
27005423 |
2016 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
|
25592817 |
2015 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
|
25614870 |
2014 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutational analysis of the GALT gene in Filipino patients.
|
24045215 |
2013 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
|
22944367 |
2012 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
|
22461411 |
2012 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
|
23022339 |
2012 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
|
22461411 |
2012 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Longitudinal assessment of intellectual achievement in patients with classical galactosemia.
|
20100763 |
2010 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
|
18956253 |
2008 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.
|
17876724 |
2007 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational spectrum of classical galactosaemia in Spain and Portugal.
|
17041746 |
2006 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of novel mutations in classical galactosemia.
|
15841485 |
2005 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
|
9222760 |
1997 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
|
8741038 |
1996 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
|
8956044 |
1996 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
|
7887416 |
1995 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
|
8112740 |
1994 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of the H319Q galactosemia mutation.
|
8499924 |
1993 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
|
1610789 |
1992 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The human galactose-1-phosphate uridyltransferase gene.
|
1427861 |
1992 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.
|
1373122 |
1992 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
|
1897530 |
1991 |
|
Classical galactosemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
|
2011574 |
1991 |