|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
|
24934730 |
2014 |
|
rs121908526
|
|
|
0.800 |
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 |
|
rs121908526
|
|
|
0.800 |
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 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
|
22547750 |
2012 |
|
rs121908526
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.
|
18282470 |
2008 |
|
rs121908526
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants.
|
18448374 |
2008 |
|
rs121908526
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.
|
18782763 |
2008 |
|
rs121908526
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
|
17495019 |
2007 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
|
17495019 |
2007 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
|
16971151 |
2006 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
|
15963748 |
2006 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
|
15849466 |
2005 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical implications of mutation analysis in primary hyperoxaluria type 1.
|
15253729 |
2004 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.
|
12777626 |
2003 |
|
rs121908526
|
|
|
0.800 |
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 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.
|
10960483 |
2000 |
|
rs121908526
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of 5 novel mutations in the AGXT gene.
|
10862087 |
2000 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of 5 novel mutations in the AGXT gene.
|
10862087 |
2000 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
|
10453743 |
1999 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Gene symbol: AGXT. Disease: primary hyperoxaluria type I.
|
10394939 |
1999 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of new mutations in primary hyperoxaluria type 1 (PH1).
|
9604803 |
1998 |
|
rs121908526
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
|
9192270 |
1997 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
|
9192270 |
1997 |
|
rs121908526
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
|
9192270 |
1997 |
|
rs121908526
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.
|
8101040 |
1993 |