rs121917724
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency.
|
28062424 |
2017 |
rs121917724
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue.
|
23516557 |
2013 |
rs121917724
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.
|
17142620 |
2006 |
rs121917721
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.
|
12384772 |
2002 |
rs121917722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.
|
12384772 |
2002 |
rs121917723
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.
|
12384772 |
2002 |
rs121917724
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.
|
12384772 |
2002 |
rs121917724
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.
|
12384772 |
2002 |
rs121917721
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expression and molecular analysis of mutations in prolidase deficiency.
|
8900231 |
1996 |
rs121917722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expression and molecular analysis of mutations in prolidase deficiency.
|
8900231 |
1996 |
rs121917723
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expression and molecular analysis of mutations in prolidase deficiency.
|
8900231 |
1996 |
rs121917724
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expression and molecular analysis of mutations in prolidase deficiency.
|
8900231 |
1996 |
rs121917724
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Expression and molecular analysis of mutations in prolidase deficiency.
|
8900231 |
1996 |
rs121917721
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel PEPD alleles causing prolidase deficiency.
|
8198124 |
1994 |
rs121917722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel PEPD alleles causing prolidase deficiency.
|
8198124 |
1994 |
rs121917723
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel PEPD alleles causing prolidase deficiency.
|
8198124 |
1994 |
rs121917724
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Four novel PEPD alleles causing prolidase deficiency.
|
8198124 |
1994 |
rs121917724
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel PEPD alleles causing prolidase deficiency.
|
8198124 |
1994 |
rs121917721
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.
|
2365824 |
1990 |
rs121917722
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.
|
2365824 |
1990 |
rs121917723
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.
|
2365824 |
1990 |
rs121917724
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.
|
2365824 |
1990 |
rs121917721
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121917722
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121917723
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|