|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
|
27005423 |
2016 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
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 |
|
Classical galactosemia
|
|
0.890 |
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 |
|
Classical galactosemia
|
|
0.890 |
CausalMutation
|
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
|
25614870 |
2014 |
|
Classical galactosemia
|
|
0.890 |
CausalMutation
|
CLINVAR |
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
|
25614870 |
2014 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
The functionally neutral N314D variation in the GALT gene is associated with Duarte galactosemia and is widespread among various worldwide populations.
|
22963887 |
2012 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
|
23022339 |
2012 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
|
22461411 |
2012 |
|
Classical galactosemia
|
|
0.890 |
CausalMutation
|
CLINVAR |
Detection of common mutations in the GALT gene through ARMS.
|
22963887 |
2012 |
|
Classical galactosemia
|
|
0.890 |
CausalMutation
|
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
Classical galactosemia
|
|
0.890 |
CausalMutation
|
CLINVAR |
[Frequencies of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Hungarian population].
|
19581158 |
2009 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
|
18956253 |
2008 |
|
Classical galactosemia
|
|
0.890 |
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 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Mutational spectrum of classical galactosaemia in Spain and Portugal.
|
17041746 |
2006 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Identification of novel mutations in classical galactosemia.
|
15841485 |
2005 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
Two unusual genotypes were observed in 2 patients homozygous for the Duarte-2 N314D allele and heterozygous for a novel mutation (Q207X- N314D/N314D in a classic galactosemia and T23A- N314D/N314D in a Duarte-2 case).
|
11754113 |
2002 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
Another form of GALT deficiency is Duarte galactosemia with N314D mutation associated alleles (Duarte-2).
|
12521227 |
2002 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
The Duarte galactosemia variant is caused by N314D.
|
11261429 |
2001 |
|
Classical galactosemia
|
|
0.890 |
CausalMutation
|
CLINVAR |
Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.
|
11152465 |
2001 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
In summary, galactosemia is a heterogeneous disorder at the molecular level, and mutation N314D, appears to be an ancient genetic variant of the GALT gene.Hum Mutat 15:206, 2000.
|
10649501 |
2000 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
|
9222760 |
1997 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
BEFREE |
We conclude that the codon change N314D in cis with the base-pair transition 1721C-->T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability.
|
9012409 |
1997 |
|
Classical galactosemia
|
|
0.890 |
CausalMutation
|
CLINVAR |
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
|
9222760 |
1997 |
|
Classical galactosemia
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
|
8741038 |
1996 |