|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
|
27005423 |
2016 |
|
rs111033773
|
|
|
0.840 |
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 |
|
rs111033773
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
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 |
|
rs111033773
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
|
25614870 |
2014 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
|
25614870 |
2014 |
|
rs111033773
|
|
|
0.840 |
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 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Classical galactosemia is frequently associated with S135L, Q188R and K285N mutations in the GALT gene.
|
22963887 |
2012 |
|
rs111033773
|
|
|
0.840 |
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 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
|
rs111033773
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
|
20008339 |
2010 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
|
18956253 |
2008 |
|
rs111033773
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.
|
18210213 |
2008 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L).
|
17876724 |
2007 |
|
rs111033773
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
K285N is one of the most frequent classical galactosemia mutations in the Slovenian population.
|
17303100 |
2007 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
BEFREE |
K285N is one of the most frequent classical galactosemia mutations in the Slovenian population.
|
17303100 |
2007 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Mutational spectrum of classical galactosaemia in Spain and Portugal.
|
17041746 |
2006 |
|
rs111033773
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Prevention of a molecular misdiagnosis in galactosemia.
|
16540753 |
2006 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in classical galactosemia.
|
15841485 |
2005 |
|
rs111033773
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
|
11152465 |
2001 |
|
rs111033773
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
|
10649501 |
2000 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
BEFREE |
We have identified one novel candidate galactosemia mutation, a T-to-A transversion at the codon 294 (F294Y) in exon 9 in addition to previously reported three missense (M142K K285N, A320T), one stop codon (E340X), and one silent (L218L) mutations in galactosemia patients which reflect considerable genetic heterogeneity in the Turkish population.
|
10220154 |
1999 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
BEFREE |
We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population.
|
9222760 |
1997 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
|
9222760 |
1997 |
|
rs111033773
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
|
9222760 |
1997 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
|
8741038 |
1996 |