(Q24672720)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

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1 reference

S Das

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

B Levinson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

S Whitney

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

C Vulpe

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

S Packman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

J Gitschier

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

language of work or name

English

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publication date

1 November 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

883-889

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

29 October 2019

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Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Metallothionein messenger RNA regulation in the mottled mouse and Menkes kinky hair syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Multipoint linkage analysis in Menkes disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Alternatively-Spliced p53 mRNA in the FAA-HTC1 Rat Hepatoma Cell Line without the Splice Site Mutations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

An ATPase operon involved in copper resistance by Enterococcus hirae

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918324

Variability in clinical expression of Menkes syndrome

28 November 2018

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

Are X-linked cutis laxa and Menkes disease allelic?

1 reference

12 December 2020

An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease

1 reference

12 December 2020

Identifiers

4039136

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

4039136

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977350%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

PubMed publication ID

7977350

2 references

Consolidated OpenCitations Corpus – April 2017

4039136