|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We describe the generation of iPSCs from a Chinese patient with Wilson's disease that bears the R778L Chinese hotspot mutation in the ATP7B gene.
|
21593220 |
2011 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
|
21796144 |
2011 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
|
21219664 |
2011 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
|
19937698 |
2009 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The arche haplotype of the ATP7B gene in Korean patients with WD may be 5-R778L-4 (D13S315.mutation.D13S316), and it might illustrate a founder effect.
|
19783880 |
2009 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.
|
18652531 |
2008 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence.
|
18034201 |
2008 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular defects in ATP7B were present in only 75.0% of Korean WND patients, with the most common mutation, p.Arg778Leu, having an allele frequency of 39.2%.
|
17587212 |
2007 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Molecular defects in ATP7B were present in only 75.0% of Korean WND patients, with the most common mutation, p.Arg778Leu, having an allele frequency of 39.2%.
|
17587212 |
2007 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The H1069Q, R778W and R778L mutations were absent in these WD patients.
|
17160357 |
2007 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Compound overload of copper and iron in patients with Wilson's disease.
|
16998622 |
2006 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In the present study (i) we firstly observed that ApoE epsilon3/3 did not delay the onset of WD; (ii) no association between ApoE genotype and WD clinical presentation in Chinese Han children, including those patients homozygous for R778L.
|
16310588 |
2005 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In contrast to direct DNA sequencing, direct mutation detection by using allele-specific probes is rapid and clinically very helpful, if a mutation occurs with a reasonable frequency in the population (ie, H1069Q in European WD patients or R778L in WD patients from the Far East).
|
16233999 |
2005 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
There is a correlation between R778L and hepatic manifestations in WD patient.
|
14966923 |
2004 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
More than 200 mutations of Wilson disease gene were found, the most common ones being H1069Q (in Europe) and R778L (in Asia).
|
15554419 |
2004 |
|
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 |