|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.
|
26686776 |
2016 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
|
24719134 |
2014 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
|
24480483 |
2014 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
|
23651979 |
2013 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
|
21700483 |
2012 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
|
21889498 |
2011 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression.
|
21476988 |
2011 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes.
|
16401743 |
2006 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
|
15643618 |
2005 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
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 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.
|
11248239 |
2001 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
|
11438993 |
2001 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.
|
11810273 |
2001 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
|
10737980 |
2000 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
|
10551832 |
1999 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
|
10551832 |
1999 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
|
10369742 |
1999 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
|
10480364 |
1999 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
|
9452087 |
1998 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.
|
9242200 |
1997 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
|
8566952 |
1996 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational analysis of patients with X-linked adrenoleukodystrophy.
|
7581394 |
1995 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Altered expression of ALDP in X-linked adrenoleukodystrophy.
|
7668254 |
1995 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.
|
7717396 |
1995 |
|
rs886044777
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
|
7825602 |
1995 |