(Q48066768)

8 February 2018

title

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy (English)

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8 February 2018

author name string

E W Krasemann

1

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8 February 2018

V Meier

2

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8 February 2018

G C Korenke

3

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8 February 2018

D H Hunneman

4

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8 February 2018

F Hanefeld

5

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8 February 2018

publication date

1 February 1996

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8 February 2018

published in

Human Genetics

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8 February 2018

volume

97

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8 February 2018

issue

2

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8 February 2018

page(s)

194-197

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8 February 2018

https://scigraph.springernature.com/pub.10.1007/bf02265264

exact match

0 references

cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF02265264

Glyceroltrioleate/glyceroltrierucate therapy in 16 patients with X-chromosomal adrenoleukodystrophy/adrenomyeloneuropathy: effect on clinical, biochemical and neurophysiological parameters

21 January 2018

1 reference

12 December 2020

Adrenoleukodystrophy: clinical and biochemical manifestations in carriers

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Komrower Lecture. Adrenoleukodystrophy: natural history, treatment and outcome

1 reference

12 December 2020

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

1 reference

12 December 2020

Penetrating the peroxisome

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

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

1 reference

12 December 2020

The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Genomic organization of the adrenoleukodystrophy gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

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

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02265264

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8 February 2018

1 reference

8 February 2018