(Q41366940)

30 September 2017

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title

DNA diagnosis of X-linked adrenoleukodystrophy (English)

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30 September 2017

S Seneca

1

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30 September 2017

W Lissens

series ordinal

2

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30 September 2017

publication date

1 January 1995

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Journal of Inherited Metabolic Disease

30 September 2017

published in

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30 September 2017

volume

18 Suppl 1

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30 September 2017

page(s)

34-44

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https://scigraph.springernature.com/pub.10.1007/bf00711427

30 September 2017

exact match

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cites work

Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00711427

Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00711427

Molecular genetics of inherited variation in human color vision

21 January 2018

1 reference

12 December 2020

Gonadal mosaicism in a family with adrenoleukodystrophy: molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible

1 reference

12 December 2020

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

1 reference

12 December 2020

Newborn screening by DNA analysis of dried blood spots

1 reference

12 December 2020

Linkage of adrenoleukodystrophy to a polymorphic DNA probe

1 reference

12 December 2020

Adrenoleukodystrophy and other peroxisomal diseases

1 reference

12 December 2020

Prenatal diagnosis of Zellweger syndrome using DNA analysis

1 reference

12 December 2020

PCR-SSCP: a method for detection of mutations

1 reference

12 December 2020

Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations

1 reference

12 December 2020

The rapid detection of unknown mutations in nucleic acids.

1 reference

12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

12 December 2020

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

1 reference

12 December 2020

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)

1 reference

12 December 2020

Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis

1 reference

12 December 2020

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations

1 reference

12 December 2020

The red-green visual pigment gene region in adrenoleukodystrophy

1 reference

12 December 2020

Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy

1 reference

12 December 2020

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

1 reference

12 December 2020

Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.

1 reference

12 December 2020

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1 reference

12 December 2020

Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus

1 reference

12 December 2020

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

1 reference

12 December 2020

Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization

1 reference

12 December 2020

Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy

1 reference

12 December 2020

Characterization of the human factor VIII gene

1 reference

12 December 2020

The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency

1 reference

12 December 2020

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy

1 reference

12 December 2020

Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase

1 reference

12 December 2020

Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis

1 reference

12 December 2020

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity

1 reference

12 December 2020

Genomic organization of the adrenoleukodystrophy gene

1 reference

12 December 2020

Peroxisomal disorders: a review

1 reference

12 December 2020

Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy

1 reference

12 December 2020

Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene

1 reference

12 December 2020

Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site

1 reference

12 December 2020

Identification of female carriers of adrenoleukodystrophy

1 reference

12 December 2020

Identification of a new frameshift mutation (1801delAG) in the ALD gene

1 reference

12 December 2020

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

1 reference

12 December 2020

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

1 reference

12 December 2020

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

1 reference

12 December 2020

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

1 reference

12 December 2020

Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family

1 reference

12 December 2020

Color vision defects in adrenomyeloneuropathy

1 reference

12 December 2020

Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene

1 reference

12 December 2020

Frequent alterations of visual pigment genes in adrenoleukodystrophy

1 reference

12 December 2020

Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy

1 reference

12 December 2020

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

1 reference

12 December 2020

The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily

1 reference

12 December 2020

A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1

1 reference

12 December 2020

X-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defect

1 reference

12 December 2020

Adrenoleukodystrophy: overlapping deletions point to a gene location in Xq28

1 reference

12 December 2020

Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport

1 reference

12 December 2020

Adrenoleukodystrophy: phenotypic variability and implications for therapy

1 reference

12 December 2020

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein

1 reference

12 December 2020

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

12 December 2020

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

1 reference

12 December 2020

Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?

1 reference

12 December 2020

The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711427

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Dimensions Publication ID

30 September 2017

1042727835

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