×
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
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
7202134 1981
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes.
6728562 1984
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy.
1481812 1992
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata.
8353949 1993
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
8441467 1993
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene.
7894167 1994
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins.
7998779 1994
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
GeneticVariation
CLINVAR
To determine whether mutations occur in the putative NBF of ALD protein, we analyzed by denaturing gradient gel electrophoresis (DGGE) exon 6 and 8 that encode most part of this domain in 50 ALD patients.
8040304 1994
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
7849723 1994
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.
8048932 1994
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
To determine whether mutations occur in the putative NBF of ALD protein, we analyzed by denaturing gradient gel electrophoresis (DGGE) exon 6 and 8 that encode most part of this domain in 50 ALD patients.
8040304 1994
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.
7811247 1994
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
GeneticVariation
CLINVAR
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
7849723 1994
×
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
GeneticVariation
CLINVAR
Altered expression of ALDP in X-linked adrenoleukodystrophy.
7668254 1995
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
GeneticVariation
CLINVAR
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
7825602 1995
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
The disruptive nature of two mutations (i.e., the frameshift and the nonsense mutation) in patients with biochemically proved childhood ALD and AMN further strongly supports the hypothesis that alterations in this gene play a crucial role in the pathogenesis of X-ALD .
7717396 1995
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.
7860075 1995
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
MR findings in adult-onset adrenoleukodystrophy.
7677014 1995
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
7825602 1995
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Twenty-five of the ALD probands whose ALD genes appeared normal by Southern blot analysis were surveyed for mutations by Single Strand Conformation Polymorphism (SSCP) procedures and DNA sequence analysis.
7581394 1995
×
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
Novel missense and frameshift mutations in the adrenoleukodystrophy gene.
9088111 1996
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.
8773611 1996