|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
|
8533760 |
1995 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The Wilson disease gene: spectrum of mutations and their consequences.
|
7626145 |
1995 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
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 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Efficient detection of mutations in Wilson disease by manifold sequencing.
|
8938442 |
1996 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
|
9554743 |
1998 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
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 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
|
9482578 |
1998 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
|
9837819 |
1998 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
|
9837819 |
1998 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular analysis and diagnosis in Japanese patients with Wilson's disease.
|
10453196 |
1999 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
|
10502776 |
1999 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum.
|
10942420 |
2000 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
|
10721669 |
2000 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum.
|
10942420 |
2000 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation.
|
11405812 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation.
|
11405812 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Ultrastructural identification of iron and copper accumulation in the liver of a male patient with Wilson disease.
|
11479773 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of Wilson disease.
|
11243728 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation.
|
11405812 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The allele frequency of R778L in Korean patients with Wilson disease was 37.9%, which was significantly higher than those of Japanese and Taiwanese patients.
|
12544487 |
2003 |