rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.
|
26686776 |
2016 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
|
24719134 |
2014 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
|
23651979 |
2013 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
|
23566833 |
2013 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
|
21700483 |
2012 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: adrenoleukodystrophy.
|
22071894 |
2012 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
|
21700483 |
2012 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
|
20661612 |
2011 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
|
21889498 |
2011 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
|
15643618 |
2005 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.
|
11810273 |
2001 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.
|
11248239 |
2001 |
rs398123105
|
|
|
0.810 |
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 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
|
10737980 |
2000 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
|
10551832 |
1999 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
|
10369742 |
1999 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
|
10480364 |
1999 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
|
9452087 |
1998 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Except for two mutations (delAG1801 and P560L) observed four times each, nearly every ALD family has a different mutation.
|
8651290 |
1996 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
|
8566952 |
1996 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.
|
7717396 |
1995 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
|
7825602 |
1995 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.
|
7717396 |
1995 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutational analysis of patients with X-linked adrenoleukodystrophy.
|
7581394 |
1995 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
|
8040304 |
1994 |