Haplotypes and mutations in Wilson disease. (Q35642943)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762553%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Haplotypes and mutations in Wilson disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762553%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

author name string

Thomas GR

1

1 reference

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25 October 2019

Roberts EA

2

1 reference

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25 October 2019

Walshe JM

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762553%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Cox DW

4

1 reference

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25 October 2019

language of work or name

English

0 references

publication date

1 June 1995

1 reference

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American Journal of Human Genetics

25 October 2019

published in

1 reference

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25 October 2019

volume

56

1 reference

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25 October 2019

issue

6

1 reference

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25 October 2019

page(s)

1315-1319

1 reference

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

25 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801091

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801091

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801091

Haplotype studies in Wilson disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801091

A simple salting out procedure for extracting DNA from human nucleated cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801091

Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801091

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801091

Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801091

Wilson disease in Iceland: a clinical and genetic study.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801091

The Wilson disease gene: spectrum of mutations and their consequences

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801091

Wilson's disease in Israel: a genetic and epidemiological study

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801091

DNA markers for the diagnosis of Wilson disease

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7762553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Allelic association and linkage studies in Wilson disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7762553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/7762553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7762553%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

PubMed publication ID

7762553

1 reference