(Q28306597)

2

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V K Proud

3

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A K Percy

4

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Y Mark

5

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N A Segal

6

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D S Goldstein

7

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C S Holmes

8

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W A Gahl

https://scigraph.springernature.com/pub.10.1038/ng1094-195

9

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language of work or name

English

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publication date

October 1994

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published in

Nature Genetics

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volume

8

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page(s)

195-202

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issue

2

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exact match

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cites work

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

1 reference

https://api.crossref.org/works/10.1038/NG1094-195

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1094-195

Isolation of a partial candidate gene for Menkes disease by positional cloning

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1094-195

The mottled gene is the mouse homologue of the Menkes disease gene

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

Premature translation termination mediates triosephosphate isomerase mRNA degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

Mechanisms for selecting 5' splice sites in mammalian pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

Dopamine-beta-hydroxylase deficiency in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

The mild form of Menkes disease: progress report on the original case

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

Are X-linked cutis laxa and Menkes disease allelic?

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

Occipital horn syndrome: report of a patient and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

Nonsense mutations and diminished mRNA levels

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

A catalogue of splice junction sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

Positron emission imaging of cardiac sympathetic innervation and function using 18F-6-fluorodopamine: effects of chemical sympathectomy by 6-hydroxydopamine.

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

Atypical Menkes steely hair disease.

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021

Variability in clinical expression of Menkes syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1094-195

7 January 2021