×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
Structural analysis of missense mutations in galactokinase 1 (GALK1 ) leading to galactosemia type-2 .
29893426
2018
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
21290184
2011
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
CLINVAR
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
20405025
2010
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
Biomarker
disease
BEFREE
Approximately 20 mutations have now been identified in human galactokinase , which result in the diseased state referred to as Type II galactosemia .
15590630
2005
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
Biomarker
disease
BEFREE
Galactokinase : structure, function and role in type II galactosemia .
15526155
2004
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
UNIPROT
In this paper we report two novel missense mutations in GALK1 gene, identified in two unrelated patients with galactokinase deficiency .
15024738
2004
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
In this paper we report two novel missense mutations in GALK1 gene, identified in two unrelated patients with galactokinase deficiency .
15024738
2004
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
UNIPROT
Functional analysis of disease-causing mutations in human galactokinase.
12694189
2003
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
Functional analysis of disease-causing mutations in human galactokinase.
12694189
2003
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency].
12647253
2003
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
11978884
2002
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
11978884
2002
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
11978883
2002
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
UNIPROT
Through mass screening of newborn infants, we identified a novel and prevalent GALK variant (designated here as the "Osaka" variant) associated with an A198V mutation in three infants with mild GALK deficiency .
11231902
2001
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
Through mass screening of newborn infants, we identified a novel and prevalent GALK variant (designated here as the "Osaka" variant) associated with an A198V mutation in three infants with mild GALK deficiency .
11231902
2001
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency .
11139256
2001
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
UNIPROT
Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency .
11139256
2001
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
We examined the sequence of the human galactokinase gene (GK1 ) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations.
10790206
2000
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
We examined the sequence of the human galactokinase gene (GK1 ) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations.
10790206
2000
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
UNIPROT
We examined the sequence of the human galactokinase gene (GK1 ) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations.
10790206
2000
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GeneticVariation
disease
BEFREE
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
10521295
1999
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
Biomarker
disease
GENOMICS_ENGLAND
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
10521295
1999
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
GermlineCausalMutation
disease
ORPHANET
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
10521295
1999
×
Entrez Id:
2584
Gene Symbol:
GALK1
GALK1
0.800
CausalMutation
disease
CLINVAR
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
10521295
1999