|
Hepatolenticular Degeneration
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
|
22692182 |
2012 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
|
21219664 |
2011 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
|
14966923 |
2004 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
|
21645214 |
2011 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
|
Hepatolenticular Degeneration
|
|
0.810 |
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
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Efficient detection of mutations in Wilson disease by manifold sequencing.
|
8938442 |
1996 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
|
9671269 |
1998 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
|
17587212 |
2007 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
|
10502776 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
|
8533760 |
1995 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |