(Q35249090)

English

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

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311736%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311736%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

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based on heuristic

inferred from title

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based on heuristic

inferred from title

2

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6 November 2019

7

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6 November 2019

author name string

A B Shah

1

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6 November 2019

H T Zhang

3

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6 November 2019

B M Ross

4

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6 November 2019

K Das

5

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6 November 2019

S Lutsenko

6

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6 November 2019

L Pavone

8

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6 November 2019

O Evgrafov

9

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6 November 2019

I A Ivanova-Smolenskaya

10

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6 November 2019

G Annerén

11

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6 November 2019

K Westermark

12

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6 November 2019

F H Urrutia

13

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6 November 2019

G K Penchaszadeh

14

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6 November 2019

I Sternlieb

15

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6 November 2019

I H Scheinberg

16

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6 November 2019

T C Gilliam

17

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6 November 2019

K Petrukhin

18

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6 November 2019

language of work or name

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publication date

1 August 1997

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6 November 2019

American Journal of Human Genetics

1 reference

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6 November 2019

61

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6 November 2019

317-328

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6 November 2019

2

1 reference

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6 November 2019

Efficient detection of mutations in Wilson disease by manifold sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

Liver copper storage and transport during development: implications for cytotoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 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=1715895

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 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=1715895

12 July 2018

MAC1, a nuclear regulatory protein related to Cu-dependent transcription factors is involved in Cu/Fe utilization and stress resistance in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

Structure-function relationships of cation translocation by Ca(2+)- and Na+, K(+)-ATPases studied by site-directed mutagenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

Genetic disorders of copper metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

H714Q mutation in Wilson disease is associated with late, neurological presentation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

Functional consequences of alterations to amino acids located in the nucleotide binding domain of the Ca2(+)-ATPase of sarcoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

'Touchdown' PCR to circumvent spurious priming during gene amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

Single-base mutational analysis of cancer and genetic diseases using membrane bound modified oligonucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715895

26 September 2018

A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9311736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification of human HLA-A and HLA-B class I histocompatibility antigens

1 reference

https://pubmed.ncbi.nlm.nih.gov/9311736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9311736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

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Europe PubMed Central

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6 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9311736%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

Europe PubMed Central

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6 November 2019

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