(Q28507511)

English

Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

ATPase, Cu++ transporting, alpha polypeptide

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

author name string

Masson W

1

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Hughes H

2

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Papworth D

3

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Boyd Y

4

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Horn N

5

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

language of work or name

0 references

publication date

1 September 1997

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

34

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

729-732

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

19 March 2017

Diverse mutations in patients with Menkes disease often lead to exon skipping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

19 March 2017

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

19 March 2017

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

29 September 2017

Menkes X linked disease: two clonal cell populations in heterozygotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

29 September 2017

Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

29 September 2017

Menkes disease: an X-linked neurological disorder of the copper metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

29 September 2017

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

2 June 2018

Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

2 June 2018

Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

2 June 2018

Menkes' X-linked disease: prenatal diagnosis and carrier detection.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051055

27 November 2018

The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9321757

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9321757

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females

1 reference

https://pubmed.ncbi.nlm.nih.gov/9321757

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/9321757

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RFLVs in mottled dappled alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/9321757

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.34.9.729

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

PMC publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

ResearchGate publication ID

0 references

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