|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This short pilot study in four patients homozygous for the p.Q188R/p.Q188R mutation reveals that arginine has no potential therapeutic role for galactosemia patients homozygous for the p.Q188R mutation.
|
30477550 |
2018 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
|
27005423 |
2016 |
|
rs75391579
|
|
G |
0.900 |
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 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
|
25614870 |
2014 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
|
23924834 |
2013 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
|
23924834 |
2013 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Only one galactosemia patient carried Q188R mutation that was in homozygous state.
|
22963887 |
2012 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
A case of classical galactosemia: identification and characterization of 3 distinct mutations in galactose-1-phosphate uridyl transferase (GALT) gene in a single family.
|
21188552 |
2011 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Classical galactosaemia is relatively common in Ireland due to a high carrier rate of the Q188R GALT mutation.
|
19418241 |
2009 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
|
18956253 |
2008 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Mutation p.Q188R was found to be the most common molecular defect among caucasian classical galactosaemia patients.
|
17041746 |
2006 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Mutation p.Q188R was found to be the most common molecular defect among caucasian classical galactosaemia patients.
|
17041746 |
2006 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and heterodimers.
|
15689161 |
2005 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The Q188R mutation accounts for 60-70% of classical galactosemia alleles in the Caucasian population.
|
12521227 |
2002 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Based upon the gene frequency of the Q188R mutation in the White population, the birth incidence of classic galactosemia is estimated at one patient per 47,000 in the White population.
|
11511927 |
2001 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
|
11152465 |
2001 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
|
10408771 |
1999 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase.
|
10037750 |
1999 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Transient kinetics of formation and reaction of the uridylyl-enzyme form of galactose-1-P uridylyltransferase and its Q168R-variant: insight into the molecular basis of galactosemia.
|
9772178 |
1998 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In humans, the point variant Q188R accounts for 60% of galactosemia cases.
|
9772178 |
1998 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene.
|
9222760 |
1997 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.
|
7887417 |
1995 |
|
rs75391579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Galactosemia patients without the Q188R mutation have a frequency of the SacI polymorphism similar to normal controls suggesting that several different galactosemia mutations must be present in them.
|
7868133 |
1995 |
|
rs75391579
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
|
7887416 |
1995 |