|
Primary hyperoxaluria, type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.
|
24718375 |
2014 |
|
Primary hyperoxaluria, type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Rapid profiling of disease alleles using a tunable reporter of protein misfolding.
|
22923379 |
2012 |
|
Primary hyperoxaluria, type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.
|
22018727 |
2012 |
|
Primary hyperoxaluria, type I
|
|
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 |
|
Primary hyperoxaluria, type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
|
17460142 |
2007 |
|
Primary hyperoxaluria, type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
|
16971151 |
2006 |
|
Primary hyperoxaluria, type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.
|
15961946 |
2005 |
|
Primary hyperoxaluria, type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
|
15464418 |
2005 |
|
Primary hyperoxaluria, type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Primary hyperoxaluria: genotype-phenotype correlation.
|
12768081 |
2003 |
|
Primary hyperoxaluria, type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.
|
11562405 |
2001 |
|
Primary hyperoxaluria, type I
|
|
0.800 |
CausalMutation
|
CLINVAR |
Identification of new mutations in primary hyperoxaluria type 1 (PH1).
|
9604803 |
1998 |
|
Primary hyperoxaluria, type I
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Identification of new mutations in primary hyperoxaluria type 1 (PH1).
|
9604803 |
1998 |
|
Primary hyperoxaluria, type I
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|