×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.
21488864 2011
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Nonsense-mediated decay approaches the clinic.
15284851 2004
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Natural history of X-linked adrenoleukodystrophy in Japan.
16023551 2005
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy.
15564782 2005
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
We screened patients with adrenoleukodystrophy /adrenomyeloneuropathy (ALD /AMN) from 20 kindreds for mutations in the ALD gene.
8566952 1996
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
17542813 2007
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Amongst 489 X-ALD families tested at Kennedy Krieger Institute, we identified 20 cases in which the ABCD1 mutation was de novo in the index case, indicating that the mutation arose in the maternal germ line and supporting a new mutation rate of at least 4.1% for this group.
21700483 2012
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
We standardized conformation sensitive gel electrophoresis (CSGE) method to detect mutations in ABCD1 gene in twenty Indian patients with X-ALD .
21889498 2011
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Peroxisomal ABC transporters: structure, function and role in disease.
22366764 2012
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
15800013 2005
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
24722136 2014
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Mouse models and genetic modifiers in X-linked adrenoleukodystrophy.
14713218 2003
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.
11336405 2001
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
24719134 2014
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
9051655 1997
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy.
11220738 2001
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Novel missense and frameshift mutations in the adrenoleukodystrophy gene.
9088111 1996
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Altered expression of ALDP in X-linked adrenoleukodystrophy.
7668254 1995
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
[Avoiding the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy by double amplification refractory mutation system].
17029209 2006
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
27084228 2016
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
11748843 2001
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.
23419472 2013
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.
6795626 1981
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Case records of the Massachusetts General Hospital. Case 1-2009. A 57-year-old man with progressive cognitive decline.
19129531 2009
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
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