(Q77223706)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12325021%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

title

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B (English)

1 reference

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3 December 2019

4

1 reference

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3 December 2019

author name string

G Loudianos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12325021%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

M Lovicu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12325021%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

V Dessi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12325021%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

E Kanavakis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12325021%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

L Zancan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12325021%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

L Zelante

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12325021%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

C Galvèz-Galvèz

8

1 reference

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3 December 2019

A Cao

9

1 reference

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3 December 2019

publication date

1 October 2002

1 reference

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3 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12325021%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

volume

20

1 reference

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3 December 2019

issue

4

1 reference

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3 December 2019

page(s)

260-266

1 reference

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

3 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

Illegitimate transcription: transcription of any gene in any cell type

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

A study of Wilson disease mutations in Britain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

A Golgi localization signal identified in the Menkes recombinant protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

Haplotype and mutation analysis in Greek patients with Wilson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

A novel RNA splicing mutation in Japanese patients with Wilson disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

CPx-type ATPases: a class of P-type ATPases that pump heavy metals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

The Wilson disease gene: spectrum of mutations and their consequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

Mutation analysis of Wilson disease in Taiwan and description of six new mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10121

21 January 2018

Identifiers

DOI

10.1002/HUMU.10121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12325021%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

1 reference