(Q28290738)

1

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S Neumann

2

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C O Sarde

3

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S Zheng

4

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K H Wu

5

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H M Wei

6

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J Bergin

7

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P A Watkins

8

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G Sack

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

10

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language of work or name

English

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publication date

1995

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published in

Human Mutation

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volume

6

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page(s)

104-15

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issue

2

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

The spectrum of cystic fibrosis mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

Bacterial periplasmic transport systems: structure, mechanism, and evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Linkage of adrenoleukodystrophy to a polymorphic DNA probe

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Internal duplication and homology with bacterial transport proteins in the mdr1 (P-glycoprotein) gene from multidrug-resistant human cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

A conserved tripeptide sorts proteins to peroxisomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

ABC Transporters: From Microorganisms to Man

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

A family of closely related ATP-binding subunits from prokaryotic and eukaryotic cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Fatty acid abnormality in adrenoleukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

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.1380060203

7 January 2021

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Adrenoleukodystrophy: impaired oxidation of fatty acids due to peroxisomal lignoceroyl-CoA ligase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Secretion of haemolysin by Escherichia coli.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

The yeast STE6 gene encodes a homologue of the mammalian multidrug resistance P-glycoprotein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Structural model of the nucleotide-binding conserved component of periplasmic permeases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Adrenoleukodystrophy: phenotypic variability and implications for therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Identification of female carriers of adrenoleukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021

Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060203

7 January 2021