Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. (Q33524914)

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English	Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.	scientific article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082719 AND SRC:MED&resulttype=core&format=json

16 January 2020

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082719 AND SRC:MED&resulttype=core&format=json

16 January 2020

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Wolfgang Stremmel

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16 January 2020

Karl Heinz Weiss

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Karl Heinz Weiss

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16 January 2020

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Uta Merle

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16 January 2020

Christoph Eisenbach

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16 January 2020

Sabine Tuma

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16 January 2020

Peter Ferenci

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16 January 2020

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18 January 2010

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16 January 2020

BMC Gastroenterology

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16 January 2020

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Europe PubMed Central

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16 January 2020

8

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16 January 2020

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Creative Commons Attribution 2.0 Generic

18 January 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Effect of estrogens on copper metabolism in Wilson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845088

21 June 2018

Diagnosis and phenotypic classification of Wilson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845088

21 June 2018

A practice guideline on Wilson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845088

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845088

21 June 2018

Wilson's disease in patients presenting with liver disease: a diagnostic challenge.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845088

21 June 2018

The Wilson disease gene is a copper transporting ATPase with homology to 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=2845088

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845088

21 June 2018

Determination of apoceruloplasmin by radioimmunoassay in nutritional copper deficiency, Menkes' kinky hair syndrome, Wilson's disease, and umbilical cord blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845088

21 June 2018

Wilson's disease, presenting as chronic active hepatitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2845088

21 June 2018

Late-onset Wilson's disease

1 reference

https://api.crossref.org/works/10.1186/1471-230X-10-8

21 January 2018

Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson's disease.

1 reference

https://api.crossref.org/works/10.1186/1471-230X-10-8

21 January 2018

Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

1 reference

https://api.crossref.org/works/10.1186/1471-230X-10-8

21 January 2018

Genotype-phenotype correlation in Italian children with Wilson's disease

1 reference

https://api.crossref.org/works/10.1186/1471-230X-10-8

21 January 2018

Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20082719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20082719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Common mutations of ATP7B in Wilson disease patients from Hungary

1 reference

https://pubmed.ncbi.nlm.nih.gov/20082719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of ceruloplasmin from its oxidase activity in serum by use of o-dianisidine dihydrochloride

1 reference

https://pubmed.ncbi.nlm.nih.gov/20082719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wilson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20082719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunoenzyme determination of the total level of ceruloplasmin in the serum from patients with hepatocerebral dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20082719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective copper binding to apo‐ceruloplasmin in a rat model and patients with Wilson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20082719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for Wilson's disease in patients with liver diseases by serum ceruloplasmin

1 reference

https://pubmed.ncbi.nlm.nih.gov/20082719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20082719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20082719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20082719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-230X-10-8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082719 AND SRC:MED&resulttype=core&format=json

16 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082719 AND SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082719 AND SRC:MED&resulttype=core&format=json

16 January 2020

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