rs75391579
|
|
Classical galactosemia
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
|
27005423 |
2016 |
rs75391579
|
|
Classical galactosemia
|
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
|
|
Classical galactosemia
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
|
25614870 |
2014 |
rs75391579
|
|
Classical galactosemia
|
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
|
|
Classical galactosemia
|
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
|
|
Classical galactosemia
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
|
18956253 |
2008 |
rs75391579
|
|
Classical galactosemia
|
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
|
|
Classical galactosemia
|
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
|
|
Classical galactosemia
|
G |
0.900 |
CausalMutation
|
CLINVAR |
The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase.
|
10037750 |
1999 |
rs75391579
|
|
Classical galactosemia
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
|
10408771 |
1999 |
rs75391579
|
|
Classical galactosemia
|
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
|
|
Classical galactosemia
|
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
|
|
Classical galactosemia
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
|
7887416 |
1995 |
rs75391579
|
|
Classical galactosemia
|
G |
0.900 |
CausalMutation
|
CLINVAR |
A prevalent mutation (Q188R) is known to cause classic galactosemia (G/G).
|
8198125 |
1994 |
rs75391579
|
|
Classical galactosemia
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
|
1897530 |
1991 |