Deficiency of galactokinase
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
|
10521295 |
1999 |
Deficiency of galactokinase
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
|
11978884 |
2002 |
Deficiency of galactokinase
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of disease-causing mutations in human galactokinase.
|
12694189 |
2003 |
Deficiency of galactokinase
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The availability of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts.
|
7670469 |
1995 |
Deficiency of galactokinase
|
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 |
Deficiency of galactokinase
|
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 |
Deficiency of galactokinase
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Molecular characterization of galactokinase deficiency in Japanese patients.
|
10570908 |
1999 |
Deficiency of galactokinase
|
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 |
Deficiency of galactokinase
|
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 |
Deficiency of galactokinase
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
|
20405025 |
2010 |
Deficiency of galactokinase
|
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 |
Deficiency of galactokinase
|
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 |
Deficiency of galactokinase
|
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 |
Deficiency of galactokinase
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
|
10521295 |
1999 |
Deficiency of galactokinase
|
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 |
Deficiency of galactokinase
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
|
29893426 |
2018 |
Deficiency of galactokinase
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
|
10521295 |
1999 |
Deficiency of galactokinase
|
0.800 |
Biomarker
|
disease |
BEFREE |
Galactokinase: structure, function and role in type II galactosemia.
|
15526155 |
2004 |
Deficiency of galactokinase
|
0.800 |
Biomarker
|
disease |
CTD_human |
The availability of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts.
|
7670469 |
1995 |
Deficiency of galactokinase
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Deficiency of galactokinase
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Deficiency of galactokinase
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Deficiency of galactokinase
|
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 |
Deficiency of galactokinase
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The diagnosis of heterozygous galactokinase deficiency was based on the following criteria: galactokinase activity more than 2.0 SD below the control population mean; when available, familial evidence for heterozygous galactokinase activity was used as additional evidence.
|
3949470 |
1986 |
Deficiency of galactokinase
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
|
10521295 |
1999 |