(Q41972352)

14 October 2017

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations (English)

1 reference

14 October 2017

1 reference

A Figus

1

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14 October 2017

A Angius

2

1 reference

14 October 2017

G Loudianos

3

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14 October 2017

C Bertini

4

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14 October 2017

V Dessi

5

1 reference

14 October 2017

A Loi

6

1 reference

14 October 2017

M Deiana

7

1 reference

14 October 2017

M Lovicu

8

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14 October 2017

N Olla

9

1 reference

14 October 2017

G Sole

10

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14 October 2017

language of work or name

English

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publication date

1 December 1995

1 reference

American Journal of Human Genetics

14 October 2017

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14 October 2017

57

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14 October 2017

1318-1324

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14 October 2017

6

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

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Haplotype studies in Wilson disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Polymorphic microsatellites and Wilson disease (WD).

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Effective amplification of long targets from cloned inserts and human genomic DNA

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Primary structure of two P-type ATPases involved in copper homeostasis in Enterococcus hirae.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Molecular characterization of beta-thalassemia in the Sardinian population

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Gene regulation of plasmid- and chromosome-determined inorganic ion transport in bacteria

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

DNA sequencing with chain-terminating inhibitors

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Treatment of Wilson's disease with ammonium tetrathiomolybdate. I. Initial therapy in 17 neurologically affected patients.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801406

Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13

18 August 2018

1 reference

12 December 2020

Allelic association and linkage studies in Wilson disease

1 reference

12 December 2020

Detection of subnanogram amounts of RNA in polyacrylamide geis in the presence and absence of protein by staining with silver

1 reference

12 December 2020

3 years of continuous oral zinc therapy in 4 patients with Wilson's disease

1 reference

12 December 2020

The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson's disease

1 reference

12 December 2020

Long Range Restriction Mapping of 13q14.3 Focused on the Wilson Disease Region

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12 December 2020

Identifiers

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14 October 2017

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