Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes (Q24672808)

2

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S Kammerer

3

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B Rolinski

4

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S Stöckler

5

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W Rabl

6

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J Gärtner

7

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S Zierz

8

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A A Roscher

American Journal of Human Genetics

9

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language of work or name

English

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publication date

April 1995

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published in

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volume

56

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issue

4

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page(s)

854-61

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cites work

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

1 reference

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

7 April 2017

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The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

7 April 2017

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Genomic organization of the adrenoleukodystrophy gene

7 April 2017

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

7 April 2017

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Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types

7 April 2017

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

7 April 2017

1 reference

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Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy

7 April 2017

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Clinical Aspects of Adrenoleukodystrophy and Adrenomyeloneuropathy

28 September 2017

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Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2

28 September 2017

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

28 September 2017

1 reference

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Phenotypic diversity, allelic series and modifier genes

28 November 2018

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

28 November 2018

1 reference

12 December 2020

Penetrating the peroxisome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

X-linked adrenoleukodystrophy: identification of the primary defect at the level of a deficient peroxisomal very long chain fatty acyl-CoA synthetase using a newly developed method for the isolation of peroxisomes from skin fibroblasts

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12 December 2020