(Q43663109)

English

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

scientific article published in January 2001

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

X-linked adrenoleukodystrophy

1 reference

based on heuristic

inferred from title

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Lenka Dvořáková

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Gabriela Štorkánová

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Martin Hrebicek

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Johannes Berger

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

G Unterrainer

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J Hujová

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

S Kmoch

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 January 2001

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

18

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

52-60

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Topology of ATP-binding domain of adrenoleukodystrophy gene product in peroxisomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

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

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

ABC Transporters: From Microorganisms to Man

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Mutational analysis of patients with X-linked adrenoleukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Genomic organization of the adrenoleukodystrophy gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Peroxisomal fatty acid beta-oxidation in HepG2 cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Identification of female carriers of adrenoleukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Adrenoleukodystrophy: the restoration of peroxisomal beta-oxidation by transfection of normal cDNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1149

21 January 2018

Identifiers

10.1002/HUMU.1149

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11438993%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q43663109&oldid=2102379054"