(Q35304287)

7 August 2017

title

Clinical utility gene card for: Menkes disease (English)

1 reference

7 August 2017

Zeynep Tümer

1

1 reference

7 August 2017

Leo Klomp

series ordinal

2

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7 August 2017

publication date

13 April 2011

1 reference

European Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

19

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7 August 2017

issue

10

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7 August 2017

page(s)

897-905

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Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190265

Mutation spectrum of ATP7A, the gene defective in Menkes disease

27 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190265

27 July 2018

https://api.crossref.org/works/10.1038%2FEJHG.2011.56

Identification of point mutations in 41 unrelated patients affected with Menkes disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190265

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.

27 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.56

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.56

X-linked Menkes disease: first documented report of germ-line mosaicism.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.56

Twenty-five novel mutations including duplications in the ATP7A gene

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190265

26 September 2018

1 reference

12 December 2020

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

1 reference

12 December 2020

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

1 reference

12 December 2020

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients

1 reference

12 December 2020

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.56

1 reference

7 August 2017

1 reference

7 August 2017

1 reference