|
rs121908524
|
|
A |
0.820 |
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 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
|
24934730 |
2014 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Primary hyperoxaluria.
|
23944302 |
2013 |
|
rs121908524
|
|
|
0.820 |
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 |
|
rs121908524
|
|
A |
0.820 |
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 |
|
rs121908524
|
|
|
0.820 |
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 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
|
22547750 |
2012 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Four mutations (G170R, 33_34insC, I244T and F152I) account for more than 50% of PH1 alleles and form the basis for diagnostic genetic screening for PH1.
|
21612638 |
2011 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
|
17495019 |
2007 |
|
rs121908524
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
|
17460142 |
2007 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
|
16971151 |
2006 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
|
15963748 |
2006 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
|
15849466 |
2005 |
|
rs121908524
|
|
|
0.820 |
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 |
|
rs121908524
|
|
|
0.820 |
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 |
|
rs121908524
|
|
|
0.820 |
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 |
|
rs121908524
|
|
|
0.820 |
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 |
|
rs121908524
|
|
|
0.820 |
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 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of 5 novel mutations in the AGXT gene.
|
10862087 |
2000 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Gene symbol: AGXT. Disease: primary hyperoxaluria type I.
|
10394939 |
1999 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
|
10453743 |
1999 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of new mutations in primary hyperoxaluria type 1 (PH1).
|
9604803 |
1998 |
|
rs121908524
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
|
9192270 |
1997 |
|
rs121908524
|
|
|
0.820 |
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 |
|
rs121908524
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
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 |