|
rs121908529
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.
|
31715429 |
2019 |
|
rs121908529
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.
|
27915025 |
2016 |
|
rs121908529
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
|
25644115 |
2015 |
|
rs121908529
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
|
25644115 |
2015 |
|
rs121908529
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
|
24988064 |
2014 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
|
24934730 |
2014 |
|
rs121908529
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.
|
23229545 |
2013 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.
|
23229545 |
2013 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Primary hyperoxaluria.
|
23944302 |
2013 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
|
24055001 |
2013 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Our results underscore the severe prognosis of primary hyperoxaluria type 1 and the necessity for early diagnosis and treatment, as well as confirm a better prognosis of the p.Gly170Arg mutation.
|
20016466 |
2010 |
|
rs121908529
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Our results underscore the severe prognosis of primary hyperoxaluria type 1 and the necessity for early diagnosis and treatment, as well as confirm a better prognosis of the p.Gly170Arg mutation.
|
20016466 |
2010 |
|
rs121908529
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
|
19479957 |
2009 |
|
rs121908529
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
|
19479957 |
2009 |
|
rs121908529
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
We have previously shown that targeted screening for the 3 most common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) can provide a molecular diagnosis in 34.5% of PH1 patients, eliminating the need for a liver biopsy.
|
17495019 |
2007 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
We have previously shown that targeted screening for the 3 most common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) can provide a molecular diagnosis in 34.5% of PH1 patients, eliminating the need for a liver biopsy.
|
17495019 |
2007 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
We have generated a spectrum of 15 missense changes including the most common PH1 mutation, G170R, and expressed them on the appropriate background of the major or minor allele, in an Escherichia coli overexpression system and in a rabbit reticulocyte transcription/translation system.
|
16971151 |
2006 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
|
15963748 |
2006 |
|
rs121908529
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.
|
16208537 |
2005 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
|
15849466 |
2005 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Early detection of Gly170Arg and Phe152Ile mutations in PH1 has important clinical implications because of their association with pyridoxine responsiveness and clinical outcome.
|
15253729 |
2004 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Early detection of Gly170Arg and Phe152Ile mutations in PH1 has important clinical implications because of their association with pyridoxine responsiveness and clinical outcome.
|
15253729 |
2004 |
|
rs121908529
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Polymerase chain reaction (PCR) was used to detect three common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) and one, c.103delG, in the GRHPR gene in DNA samples from 365 unrelated individuals referred for diagnosis of PH1 and/or PH2 by liver enzyme analysis.
|
15327387 |
2004 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Polymerase chain reaction (PCR) was used to detect three common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C) and one, c.103delG, in the GRHPR gene in DNA samples from 365 unrelated individuals referred for diagnosis of PH1 and/or PH2 by liver enzyme analysis.
|
15327387 |
2004 |
|
rs121908529
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
|
12559847 |
2003 |