|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
|
8533760 |
1995 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Efficient detection of mutations in Wilson disease by manifold sequencing.
|
8938442 |
1996 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Efficient detection of mutations in Wilson disease by manifold sequencing.
|
8938442 |
1996 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
|
9311736 |
1997 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
|
9452121 |
1998 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
|
9482578 |
1998 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.
|
9887381 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.
|
10406672 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
|
10502776 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.
|
11690702 |
2001 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Common mutations of ATP7B in Wilson disease patients from Hungary.
|
11857545 |
2002 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.
|
12557139 |
2003 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.
|
16133174 |
2005 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Wilson's Disease.
|
16233999 |
2005 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Late-onset Wilson's disease.
|
17433323 |
2007 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |