PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
|
21392394 |
2011 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
|
21465523 |
2011 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
|
21031596 |
2011 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.
|
17041890 |
2006 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
|
14630978 |
2004 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
|
15542397 |
2004 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
|
15542397 |
2004 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
|
10528859 |
1999 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
|
10528859 |
1999 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.
|
9452066 |
1998 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A human gene responsible for Zellweger syndrome that affects peroxisome assembly.
|
1546315 |
1992 |
PEROXISOME BIOGENESIS DISORDER 5B
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Peroxisome biogenesis disorders
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry.
|
28089346 |
2017 |
Peroxisome biogenesis disorders
|
0.630 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Peroxisome biogenesis disorders
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Carrier frequency of two BBS2 mutations in the Ashkenazi population.
|
23829372 |
2014 |
Peroxisome biogenesis disorders
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.
|
23430938 |
2012 |
Peroxisome biogenesis disorders
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
|
21465523 |
2011 |
Peroxisome biogenesis disorders
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
|
21031596 |
2011 |
Peroxisome biogenesis disorders
|
0.630 |
CausalMutation
|
group |
CLINVAR |
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
|
14630978 |
2004 |
Peroxisome biogenesis disorders
|
0.630 |
GeneticVariation
|
group |
BEFREE |
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
|
14630978 |
2004 |
Peroxisome biogenesis disorders
|
0.630 |
CausalMutation
|
group |
CLINVAR |
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
|
15542397 |
2004 |