rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
CausalMutation
CLINVAR
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
9482850
1998
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
GeneticVariation
CLINVAR
Yeast peroxisomal multifunctional enzyme: (3R)-hydroxyacyl-CoA dehydrogenase domains A and B are required for optimal growth on oleic acid.
10497229
1999
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
0.800
GeneticVariation
UNIPROT
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
10400999
1999
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
GeneticVariation
CLINVAR
Binary structure of the two-domain (3R)-hydroxyacyl-CoA dehydrogenase from rat peroxisomal multifunctional enzyme type 2 at 2.38 A resolution.
12517343
2003
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
CausalMutation
CLINVAR
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
9915948
1999
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
GeneticVariation
CLINVAR
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
9482850
1998
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
GeneticVariation
CLINVAR
Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV.
10419023
1999
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
0.800
GeneticVariation
UNIPROT
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
9482850
1998
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
GeneticVariation
CLINVAR
Expanding the genotypic spectrum of Perrault syndrome.
26970254
2017
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
GeneticVariation
CLINVAR
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.
25967389
2015
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
GeneticVariation
CLINVAR
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
16385454
2006
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
0.800
GeneticVariation
UNIPROT
Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic residues for 2-enoyl-CoA hydratase 2 activity.
10671535
2000
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
GeneticVariation
CLINVAR
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
27290639
2016
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
CausalMutation
CLINVAR
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
16385454
2006
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
A
0.800
CausalMutation
CLINVAR
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.
25967389
2015
rs137853096
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
0.800
GeneticVariation
UNIPROT
D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
11743515
2001
rs137853097
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
0.800
GeneticVariation
UNIPROT
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
9482850
1998
rs137853097
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
T
0.800
GeneticVariation
CLINVAR
A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.
12562856
2003
rs137853097
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
T
0.800
CausalMutation
CLINVAR
Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
10400999
1999
rs137853097
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
G
0.800
GeneticVariation
CLINVAR
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
16385454
2006
rs137853097
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
0.800
GeneticVariation
UNIPROT
Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic residues for 2-enoyl-CoA hydratase 2 activity.
10671535
2000
rs137853097
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
T
0.800
GeneticVariation
CLINVAR
Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2.
15644212
2005
rs137853097
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
G
0.800
GeneticVariation
CLINVAR
Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants.
22864515
2012
rs137853097
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
T
0.800
CausalMutation
CLINVAR
Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants.
22864515
2012
rs137853097
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
Bifunctional peroxisomal enzyme deficiency
T
0.800
CausalMutation
CLINVAR
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
16385454
2006