|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
|
2011574 |
1991 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
|
1897530 |
1991 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
The human galactose-1-phosphate uridyltransferase gene.
|
1427861 |
1992 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
|
1610789 |
1992 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.
|
1373122 |
1992 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Molecular characterization of the H319Q galactosemia mutation.
|
8499924 |
1993 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
|
8112740 |
1994 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
|
7887416 |
1995 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
|
8741038 |
1996 |
|
rs111033773
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
|
8956044 |
1996 |
|
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 |
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
|
|
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
|
|
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
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in classical galactosemia.
|
15841485 |
2005 |
|
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 |
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 |
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
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
|
20008339 |
2010 |