×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Complications of use of the neodymium: yttrium-aluminum-garnet laser in neurosurgery.
2409472 1985
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Recombinant subunit vaccines from yeast.
2679931 1989
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease-specific mutations, provide convincing evidence that pWD is the Wilson disease gene.
8298641 1993
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
8298639 1993
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease-specific mutations, provide convincing evidence that pWD is the Wilson disease gene.
8298641 1993
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.
8298640 1993
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Strial dysfunction in a melanocyte deficient mutant rat (Ws/Ws rat).
8203200 1994
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
8533760 1995
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
A novel RNA splicing mutation in Japanese patients with Wilson disease.
8526905 1995
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Wilson disease in Iceland: a clinical and genetic study.
7726170 1995
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
We have previously reported the cloning of a gene that encodes a copper transporting P-type ATPase (ATP7B ) which is defective in Wilson disease .
7626145 1995
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
8533760 1995
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
We have previously reported the cloning of a gene that encodes a copper transporting P-type ATPase (ATP7B ) which is defective in Wilson disease .
7626145 1995
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.
8931691 1996
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease .
8782057 1996
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Efficient detection of mutations in Wilson disease by manifold sequencing.
8938442 1996
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Efficient detection of mutations in Wilson disease by manifold sequencing.
8938442 1996
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.
8931691 1996
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
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.
8980283 1997
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
9311736 1997
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Very high frequency of the His1069Gln mutation in Polish Wilson disease patients.
9352458 1997
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
9311736 1997
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Haplotype and mutation analysis in Japanese patients with Wilson disease.
9199563 1997
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Haplotype and mutation analysis in Japanese patients with Wilson disease.
9199563 1997
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae.
9654149 1998