rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.
|
24685009 |
2014 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
|
24719134 |
2014 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Parallel assessment of globin lentiviral transfer in induced pluripotent stem cells and adult hematopoietic stem cells derived from the same transplanted β-thalassemia patient.
|
23712774 |
2013 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.
|
23671276 |
2013 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.
|
23430809 |
2013 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Gene therapy on demand: site specific regulation of gene therapy.
|
23566848 |
2013 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.
|
23300730 |
2012 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Peroxisomal ABC transporters: structure, function and role in disease.
|
22366764 |
2012 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Latitude is significantly associated with the prevalence of multiple sclerosis: a meta-analysis.
|
21478203 |
2011 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity.
|
22198747 |
2011 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.
|
21966424 |
2011 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report.
|
21586746 |
2011 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.
|
21488864 |
2011 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis.
|
20626745 |
2010 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Stem cells in genetic myelin disorders.
|
20455653 |
2010 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Hematopoietic stem cell gene transfer for the treatment of hemoglobin disorders.
|
20008255 |
2009 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD).
|
16415970 |
2006 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.
|
16949688 |
2006 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Natural history of X-linked adrenoleukodystrophy in Japan.
|
16023551 |
2005 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
|
15800013 |
2005 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy.
|
15564782 |
2005 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
|
15811009 |
2005 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening.
|
15812458 |
2005 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid.
|
15388659 |
2004 |
rs713993050
|
|
Adrenoleukodystrophy
|
TC |
0.700 |
CausalMutation
|
CLINVAR |
Nonsense-mediated decay approaches the clinic.
|
15284851 |
2004 |